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The GetTested DNA Metabolic Health Test provides you with an in-depth understanding of your metabolic health by analyzing 240 carefully selected genes. This comprehensive analysis offers insights into your metabolism, blood sugar, weight, thyroid, parathyroid, and much more, along with personalized recommendations based on your genetics.

<p>The GetTested DNA Metabolic Health Test provides you with an in-depth understanding of your metabolic health by analyzing 240 carefully selected genes. This comprehensive analysis offers insights into your metabolism, blood sugar, weight, thyroid, parathyroid, and much more, along with personalized recommendations based on your genetics.</p>

DNA Metabolic Health Test

Do you often find yourself feeling tired and drained, even after a full night’s sleep? Fatigue can take a toll on your daily life and overall well-being. But what if you could uncover the genetic factors contributing to your low energy levels? GetTested’s DNA Fatigue is a comprehensive analysis of 240 carefully selected genes that can shed light on the underlying causes of your fatigue.

<p>Do you often find yourself feeling tired and drained, even after a full night’s sleep? Fatigue can take a toll on your daily life and overall well-being. But what if you could uncover the genetic factors contributing to your low energy levels? GetTested’s DNA Fatigue is a comprehensive analysis of 240 carefully selected genes that can shed light on the underlying causes of your fatigue.</p>

DNA Fatigue Test

DIO1, also known as Type 1 Deiodinase, is a crucial enzyme involved in the regulation of thyroid hormone activity. Positioned predominantly within various tissues, including the liver, kidney, and thyroid gland, DIO1 plays a pivotal role in controlling thyroid hormone levels and mediating tissue-specific responses to thyroid hormones. One of the primary functions of DIO1 is its involvement in the activation of thyroid hormones through the conversion of thyroxine (T4), the inactive form of thyroid hormone, into triiodothyronine (T3), the active form. DIO1 accomplishes this by catalyzing the removal of an iodine atom from the outer ring of T4, generating T3,...

DIO1

DIO2, also known as Type 2 Deiodinase, is a vital enzyme involved in the regulation of thyroid hormone activity. Positioned predominantly within various tissues, including the thyroid gland, brain, and brown adipose tissue, DIO2 plays a pivotal role in controlling thyroid hormone levels and mediating tissue-specific responses to thyroid hormones. One of the primary functions of DIO2 is its involvement in the conversion of thyroxine (T4), the inactive form of thyroid hormone, into triiodothyronine (T3), the active form. DIO2 accomplishes this by catalyzing the removal of an iodine atom from the outer ring of T4, generating T3, which binds to thyroid...

DIO2

DIO3, also known as Type 3 Deiodinase, is a crucial enzyme involved in the regulation of thyroid hormone activity. Positioned primarily within various tissues, including the liver, brain, and placenta, DIO3 plays a pivotal role in controlling thyroid hormone levels and mediating tissue-specific responses to thyroid hormones. One of the key functions of DIO3 is its ability to catalyze the inactivation of thyroid hormones, particularly thyroxine (T4), by converting it into an inactive metabolite known as reverse triiodothyronine (rT3). This enzymatic activity helps fine-tune thyroid hormone signaling by reducing the availability of active thyroid hormones in target tissues, thereby modulating metabolic...

DIO3

DIPK2A (Divergent Protein Kinase Domain 2A): DIPK2A is a lesser-known gene with limited information available. It may be involved in kinase activity, impacting cellular signaling pathways....

DIPK2A

DKK1 (Dickkopf-1): DKK1 is a secreted protein that acts as an inhibitor of the Wnt signaling pathway, playing a critical role in embryonic development, bone formation, and cancer. By binding to LRP5/6 receptors, DKK1 prevents Wnt from activating its signaling pathway, influencing cell fate determination, proliferation, and differentiation. DKK1 is implicated in bone density regulation and osteoporosis, and its expression is associated with various cancers, making it a target for therapeutic intervention....

DKK1

ADGRG6 (Adhesion G Protein-Coupled Receptor G6): ADGRG6, also known as GPR126, is a receptor involved in cell adhesion and signal transduction. It plays a critical role in developmental processes such as myelination of peripheral nerves and cardiac development. Mutations in ADGRG6 have been associated with developmental abnormalities, particularly in the nervous and cardiovascular systems....

ADGRG6

DLC1 (Deleted in Liver Cancer 1): DLC1 functions as a tumor suppressor gene and is often inactivated in various types of cancer. It encodes a Rho GTPase-activating protein, involved in regulating cell shape, motility, and proliferation. Restoration of DLC1 function has been explored as a therapeutic approach in cancer treatment....

DLC1

ADGRL2 (Adhesion G Protein-Coupled Receptor L2): ADGRL2, also known as latrophilin 2, is part of the adhesion-GPCR family, involved in cell adhesion and communication. It plays a role in the development of the nervous system and has been implicated in certain neurological disorders. ADGRL2's unique mechanism combines G protein-coupled receptor signaling with cell adhesion, making it a point of interest in neurobiological research....




ADGRL2

ADGRL3 (Adhesion G Protein-Coupled Receptor L3): ADGRL3 is a gene encoding a protein that belongs to the adhesion G protein-coupled receptor family, which is known for mediating cell-cell interactions and playing a crucial role in the development and function of the nervous system. It is particularly important in brain development and neuronal signaling. Recent research has linked variations in ADGRL3 to neurological disorders, including attention deficit hyperactivity disorder (ADHD), suggesting its significant influence on neural connectivity and brain function....

ADGRL3

DLEU7 (Deleted in Lymphocytic Leukemia 7): DLEU7 is a gene that has garnered attention in cancer research, particularly in the context of chronic lymphocytic leukemia. Its name reflects its discovery, where it was found deleted in certain leukemia cases. This gene is thought to play a role in cell cycle regulation and apoptosis, and its deletion or dysfunction may contribute to the development and progression of cancer. Research into DLEU7 offers potential insights into novel therapeutic targets and diagnostic markers for leukemia and possibly other cancers....

DLEU7

DLG2 (Discs Large Homolog 2): The DLG2 gene encodes a member of the membrane-associated guanylate kinase (MAGUK) family, proteins involved in synaptic assembly and function. It is particularly significant in the nervous system, where it contributes to synaptic plasticity and neuronal signaling. Disruptions in DLG2 have been linked to neurological disorders, emphasizing its role in brain function and development....

DLG2

ADGRL4 (Adhesion G Protein-Coupled Receptor L4, also known as ELTD1): ADGRL4 is implicated in angiogenesis and vascular development. It has been identified as a potential marker and therapeutic target in cancer due to its role in tumor vasculature. By regulating endothelial cell function and contributing to the formation of new blood vessels, ADGRL4 plays a crucial role in both physiological and pathological processes, including wound healing and cancer progression. Research aims to leverage ADGRL4's function for anti-angiogenic therapies in cancer treatment....

ADGRL4

DLG5 (Discs Large Homolog 5): DLG5 is a member of the Discs Large (DLG) protein family and is involved in the organization of cellular structures and signal transduction at cell junctions. It plays a role in maintaining epithelial cell integrity and may have implications in inflammatory bowel diseases (IBD) such as Crohn's disease....

DLG5

ADH1A (Alcohol Dehydrogenase 1A): ADH1A is an enzyme involved in the metabolism of alcohols in the liver, converting ethanol to acetaldehyde. It plays a crucial role in alcohol metabolism and is important in understanding the body's processing of alcohol and its genetic variations that can influence susceptibility to alcoholism and alcohol-related disorders....

ADH1A

DLK1 (Delta Like Non-Canonical Notch Ligand 1): DLK1 is a transmembrane protein involved in the regulation of adipogenesis, neurogenesis, and other developmental processes. It acts as a regulator of Notch signaling pathways and has been implicated in metabolic regulation and cancer....

DLK1

ADH1C (Alcohol Dehydrogenase 1C): Similar to ADH1B, ADH1C is involved in the metabolic breakdown of alcohol in the liver. It plays a role in the oxidation of ethanol to acetaldehyde. Genetic variations in ADH1C can influence individual responses to alcohol consumption and have been linked to risks of alcohol dependence and various alcohol-related health issues....

ADH1C

DMBX1 (Diencephalon/Mesencephalon Homeobox 1): DMBX1 is a homeobox gene implicated in early brain development, particularly in the diencephalon and mesencephalon regions. Its role is crucial in the formation and differentiation of various brain structures. Alterations in DMBX1 expression or function may have implications in developmental brain disorders....

DMBX1

ADH4 (Alcohol Dehydrogenase 4): ADH4 is part of the alcohol dehydrogenase family and is involved in the metabolism of various alcohols, including ethanol. It also plays a role in the metabolism of retinol (vitamin A) to retinaldehyde, which is significant for vision and overall retinoid metabolism....

ADH4

DNAJA4 (DnaJ Heat Shock Protein Family (Hsp40) Member A4): DNAJA4 is part of the Hsp40 family, proteins that assist in protein folding and prevent misfolded protein aggregation. It's involved in the cellular stress response, particularly in response to heat shock. Its function is crucial for maintaining protein homeostasis and cell survival under stress....

DNAJA4

ADM (Adrenomedullin): ADM is a peptide hormone that plays a role in cardiovascular and circulatory regulation. It has vasodilatory properties, helping to regulate blood pressure and fluid balance. ADM is also involved in immune response modulation and has been studied for its potential protective effects in various cardiovascular diseases....

DNAJB4 (DnaJ Heat Shock Protein Family (Hsp40) Member B4): DNAJB4 is a co-chaperone that assists in protein folding, degradation, and assembly. It helps in managing cellular stress responses, particularly in response to heat shock. DNAJB4 is important in maintaining cellular homeostasis and protecting cells from stress-induced damage....

DNAJB4

DNMT3B (DNA Methyltransferase 3 Beta): DNMT3B is crucial in DNA methylation, a key epigenetic modification process affecting gene expression. It's essential in developmental processes and has been implicated in various disorders, including immunodeficiency, centromeric region instability, and facial anomalies syndrome (ICF syndrome), as well as in cancer....

DNMT3B

DOCK10 (Dedicator Of Cytokinesis 10): DOCK10 is involved in actin cytoskeletal rearrangements and plays a role in immune cell function, particularly in T-cell and B-cell activation and migration. This gene is significant in understanding immune response and has implications in autoimmune diseases and immune deficiencies....

DOCK10

DOCK3 (Dedicator Of Cytokinesis 3): DOCK3 is a member of the DOCK family, involved in actin cytoskeleton remodeling and cell motility. It's particularly important in the nervous system, where it may influence neural development and synaptic function. Dysregulation of DOCK3 has been linked to neurodegenerative diseases....

DOCK3

DOCK9 (Dedicator of Cytokinesis 9): DOCK9 is a gene that encodes a guanine nucleotide exchange factor (GEF) protein. GEFs play a vital role in regulating the activity of Rho family GTPases, which are central to cellular processes like cytoskeletal dynamics and cell migration. DOCK9's functions are related to cell morphology, adhesion, and migration, making it relevant in developmental biology and cancer metastasis....

DOCK9

DOK5 (Docking Protein 5): DOK5 is part of the DOK family of proteins, which are substrates for receptor tyrosine kinases and play roles in signaling pathways that regulate cell growth, differentiation, and survival. DOK5 specifically is involved in neuronal differentiation and has been implicated in insulin signaling pathways. Its function is crucial for nervous system development and potentially for the regulation of metabolic processes....

DOK5

DOK6 (Docking Protein 6): DOK6 is part of the DOK family proteins, acting as substrates and regulators of tyrosine kinases. It's involved in signaling pathways related to nerve cell development and function. DOK6 has been implicated in neuronal differentiation and has potential relevance in neurological disorders....

DOK6

DPEP1 (Dipeptidase 1): DPEP1 is involved in the hydrolysis of dipeptides and has a role in detoxification processes, particularly in the kidney. It participates in the metabolism of glutathione and leukotrienes, compounds important for cellular redox balance and inflammation. Variations in DPEP1 activity can affect drug metabolism and the body's response to inflammatory stimuli. Research into DPEP1 focuses on its implications for kidney function, hypertension, and inflammatory diseases....

DPEP1

DPPA2 (Developmental Pluripotency-Associated 2): DPPA2 is a gene associated with pluripotency and is involved in the regulation of embryonic stem cell identity. It plays a role in maintaining the undifferentiated state of embryonic stem cells and is part of the molecular machinery that controls pluripotency-associated gene expression....

DPPA2

DPY19L3 (Dpy-19 Like 3): DPY19L3 is a less-characterized member of the DPY19 family, potentially involved in transmembrane transport or protein trafficking. Its precise functions and role in human health are not fully elucidated....

DPY19L3

DPYSL5 (Dihydropyrimidinase Like 5): DPYSL5 is part of a family of proteins involved in neurodevelopment, particularly in axonal growth and guidance. It's implicated in neuronal repair processes and has been studied in the context of neurodegenerative diseases....

DPYSL5

DRD1 (Dopamine Receptor D1): DRD1 is a major dopamine receptor in the brain, playing a key role in the dopaminergic system, which is involved in reward, motivation, and motor control. Dysregulation of DRD1 is implicated in psychiatric disorders like schizophrenia and addictive behaviors....

DRD1

AEBP2 (Adipocyte Enhancer Binding Protein 2): AEBP2 is a DNA-binding transcription factor involved in adipogenesis and the regulation of gene expression. It plays a role in the differentiation of adipocytes and is also implicated in the epigenetic regulation of genes, particularly as a component of the Polycomb Repressive Complex 2 (PRC2), which is essential for maintaining the transcriptional repression of genes during development and differentiation....

AEBP2

AFF3 (AF4/FMR2 Family Member 3): AFF3 is a gene related to transcriptional regulation and chromatin organization. It belongs to the AF4/FMR2 family, which includes genes involved in gene expression. AFF3 may participate in the control of gene transcription, influencing the development and function of various cell types....

AFF3

DRD3 (Dopamine Receptor D3): DRD3 is another dopamine receptor subtype, expressed in the brain. It's involved in cognitive, emotional, and motor functions. Variants in DRD3 have been studied in relation to schizophrenia, Parkinson's disease, and susceptibility to addictive behaviors....

DRD3

DRD5 (Dopamine Receptor D5): DRD5 is a dopamine receptor that shares similarities with DRD1. It's involved in cognitive and emotional processes and is a target for certain pharmacological treatments for psychiatric and neurological disorders....

DRD5

AGBL1 (ATP/GTP-binding protein-like 1): AGBL1, belonging to the ATP/GTP-binding protein-like family, plays a pivotal role in cellular processes involving nucleotide binding and hydrolysis. This protein is intricately involved in various cellular functions, including cytoskeletal organization, vesicular trafficking, and signal transduction pathways, by modulating the dynamics of nucleotide metabolism. AGBL1's activity is crucial for maintaining cellular homeostasis and orchestrating dynamic cellular responses to extracellular cues. Dysregulation of AGBL1 has been implicated in numerous pathological conditions, including neurodegenerative diseases, cancer progression, and immune disorders, underscoring its significance in cellular physiology and disease pathogenesis. Understanding the precise mechanisms governing AGBL1 function holds promise...




AGBL1

DSP (Desmoplakin): Desmoplakin is a key cytoskeletal linker protein essential for the structural integrity and function of desmosomes, which are specialized cell-cell adhesion structures in epithelial and cardiac tissues. It plays a critical role in the mechanical coupling and signal transduction that underlie cellular cohesion and stability. By anchoring intermediate filaments to desmosomal cadherins, DSP ensures the mechanical integrity of tissues subjected to significant stress, such as the skin, heart, and certain mucosal surfaces. Mutations in the DSP gene can lead to a variety of genetic disorders, including cardiomyopathies and skin diseases, highlighting its crucial role in tissue architecture and...

AGMO (Alkylglycerol Monooxygenase): AGMO is an enzyme involved in lipid metabolism, specifically in the oxygenation of ether lipids. It plays a role in the metabolism of bioactive lipids, which are important for cell signaling and inflammation. Dysregulation of AGMO may impact lipid-related disorders and inflammatory conditions....

AGMO

DTWD2 (DTW Domain Containing 2): DTWD2 is a relatively less characterized gene but is believed to be involved in protein ubiquitination, a process crucial for protein degradation and regulation. It may play a role in cellular protein quality control and has potential implications in various cellular processes, including cell cycle regulation and response to stress....

DTWD2

AGPAT2 (1-acylglycerol-3-phosphate O-acyltransferase 2): AGPAT2 is a crucial enzyme involved in lipid metabolism, particularly in the biosynthesis of phospholipids and triglycerides. It catalyzes the conversion of lysophosphatidic acid (LPA) to phosphatidic acid (PA), a key step in the Kennedy pathway for triacylglycerol synthesis. AGPAT2 plays a vital role in various cellular processes such as adipocyte differentiation, lipid storage, and membrane biogenesis. Dysregulation of AGPAT2 activity has been implicated in metabolic disorders such as obesity, insulin resistance, and dyslipidemia. Additionally, mutations in the AGPAT2 gene are associated with congenital generalized lipodystrophy type 1 (CGL1), a rare genetic disorder characterized by the...

AGPAT2

DUSP15 (Dual Specificity Phosphatase 15): DUSP15 is a member of the dual-specificity protein phosphatases, regulating aspects of cell signaling by dephosphorylating target substrates. It's involved in the modulation of pathways that control cell growth and differentiation. The specific physiological and pathological roles of DUSP15 are yet to be fully elucidated....

DUSP15

AGPAT5 (1-Acylglycerol-3-Phosphate O-Acyltransferase 5): AGPAT5 is involved in the biosynthesis of phospholipids, a key component of cell membranes. It plays a role in the conversion of lysophosphatidic acid to phosphatidic acid, crucial for the production of various types of phospholipids. Dysregulation of AGPAT5 can affect lipid metabolism and is linked to disorders like obesity and lipodystrophy....

AGPAT5

ECHDC3, also known as Enoyl-CoA Hydratase Domain-Containing Protein 3, is an enzyme involved in fatty acid metabolism. Specifically, ECHDC3 contains a domain characteristic of enoyl-CoA hydratases, which catalyze the hydration of enoyl-CoA intermediates in the β-oxidation pathway of fatty acid degradation. One of the primary functions of ECHDC3 is its role in fatty acid β-oxidation, a metabolic process that occurs in the mitochondria and peroxisomes and is essential for energy production. During β-oxidation, fatty acids are broken down into acetyl-CoA molecules, which can enter the citric acid cycle to generate ATP, the primary energy currency of the cell. ECHDC3 participates in...

ECHDC3

EDAR (Ectodysplasin A Receptor): EDAR is a receptor important for the development of skin appendages like hair, teeth, and sweat glands. Mutations in this gene can lead to ectodermal dysplasias, a group of disorders affecting the development of these structures....

EDAR

plays a crucial role in blood pressure regulation and fluid balance. Mutations in the AGT gene can influence the risk of hypertension and cardiovascular diseases. Understanding AGT's function is key in managing these conditions....


AHI1 (Abelson Helper Integration Site 1): AHI1 is involved in ciliogenesis and cellular signaling. Mutations in AHI1 are linked to Joubert syndrome, a rare genetic disorder characterized by developmental delays, cerebellar abnormalities, and other neurological symptoms. It plays a role in brain development and function....

AHI1

EDNRA (Endothelin Receptor Type A): EDNRA is a receptor for endothelins, peptides involved in vasoconstriction and blood pressure regulation. It plays a role in cardiovascular system function and has been implicated in cardiovascular diseases....

EDNRA

AHSG (Alpha-2-HS-Glycoprotein): AHSG, also known as fetuin-A, is a glycoprotein that plays a role in several physiological processes including mineralization inhibition and insulin sensitivity. High levels of AHSG are associated with insulin resistance and metabolic syndrome, making it a potential biomarker for these conditions....

AHSG

EFNA5 (Ephrin A5): EFNA5 belongs to the ephrin family and acts as a ligand for Eph receptors, which are involved in various developmental processes, including axon guidance, angiogenesis, and tissue patterning. Dysregulation of EFNA5 signaling can contribute to aberrant development and has been studied in the context of cancer progression....

EFNA5

EGFLAM (EGF-Like, Fibronectin Type III and Laminin G Domain Containing): EGFLAM is a gene that encodes a protein containing domains found in extracellular matrix proteins. While its exact functions are still being elucidated, the presence of EGF-like, fibronectin type III, and laminin G domains suggests potential roles in cell adhesion, signaling, and tissue development. Further research is needed to fully understand its specific functions and significance....

EGFLAM

AKNA (AT-Hook Transcription Factor): AKNA is a transcription factor that plays a crucial role in the regulation of immune responses, particularly in the development and function of lymphoid cells. It is involved in modulating the expression of genes crucial for cell proliferation and differentiation within the immune system. Dysregulation of AKNA has been associated with autoimmune diseases and may play a role in the development of lymphomas, emphasizing its significance in immune regulation and cancer....

AKNA

AKR1A1 (Aldo-keto reductase family 1 member A1): AKR1A1, a member of the aldo-keto reductase family, plays a pivotal role in cellular detoxification and metabolism. This enzyme catalyzes the reduction of various aldehydes and ketones, contributing to the regulation of oxidative stress and the detoxification of xenobiotics. AKR1A1 is involved in crucial physiological processes such as the metabolism of glucose and steroids, as well as the synthesis of prostaglandins and neurotransmitters. Its activity is essential for maintaining cellular homeostasis and protecting against oxidative damage. Dysregulation of AKR1A1 has been implicated in several pathological conditions including cancer, diabetes, and neurodegenerative diseases. Understanding...

AKR1A1

EGLN2 (Egl-9 Family Hypoxia-Inducible Factor 2): EGLN2 is a prolyl hydroxylase that regulates the stability of hypoxia-inducible factors (HIFs), which are key mediators in cellular response to low oxygen levels. EGLN2 is involved in cellular adaptation to hypoxia and has implications in cancer biology, as HIFs are often upregulated in tumors. ...

EGLN2

EGR2 (Early Growth Response 2): EGR2 is a transcription factor involved in the regulation of neuronal and immune system development. It plays a crucial role in myelination in the peripheral nervous system and is implicated in the control of cell growth and differentiation. Mutations in EGR2 are associated with Charcot-Marie-Tooth disease and related neuropathies, highlighting its importance in neural development and function....

EGR2

EHD3 (EH-Domain Containing 3): EHD3 is a member of the EHD protein family, involved in endocytic recycling. It plays a significant role in the trafficking and recycling of membrane proteins back to the plasma membrane, ensuring proper cell surface composition and signaling. EHD3's function in membrane trafficking is critical for cardiovascular health, and its dysregulation has been associated with heart diseases, highlighting its importance in cardiac muscle cell function....

EHD3

AKT3, also known as Protein Kinase B (PKB) gamma, is a serine/threonine protein kinase that plays a crucial role in various cellular processes, including cell survival, proliferation, metabolism, and growth. It is a member of the AKT family of kinases, which also includes AKT1 and AKT2. One of the primary functions of AKT3 is its role in the regulation of cell survival and apoptosis. AKT3 is activated in response to growth factors, cytokines, and other extracellular signals that stimulate cell growth and survival. Upon activation, AKT3 phosphorylates downstream targets involved in apoptotic regulation, such as BAD and caspase-9, leading to their...

AKT3

EIF3M (Eukaryotic Translation Initiation Factor 3 Subunit M): EIF3M is a component of the eukaryotic translation initiation factor 3 (eIF3) complex, which is essential for protein synthesis. It plays a role in the initiation phase of translation and is important for overall protein production in cells. Alterations in EIF3M can impact cellular growth and proliferation....

EIF3M

ALCAM (Activated Leukocyte Cell Adhesion Molecule): ALCAM is a cell adhesion molecule involved in various biological processes including neuronal development, immune responses, and tumor progression. It facilitates cell-cell interactions and is important for the migration and targeting of cells. Dysregulation of ALCAM has been implicated in cancer metastasis and autoimmune diseases....

ALCAM

EIF4A1, also known as Eukaryotic Translation Initiation Factor 4A1, is a highly conserved RNA helicase enzyme involved in the initiation of translation, a fundamental process in protein synthesis. It is a member of the DEAD-box RNA helicase family and plays a crucial role in unwinding secondary structures within mRNA molecules, enabling ribosomes to access the initiation codon and begin protein synthesis. One of the primary functions of EIF4A1 is its role in the assembly of the eukaryotic translation initiation complex. In conjunction with other eukaryotic initiation factors, EIF4A1 binds to the 5' untranslated region (UTR) of mRNA and scans along the...

EIF4A1

ALDH1A2 (Aldehyde Dehydrogenase 1 Family Member A2): ALDH1A2 is a member of the aldehyde dehydrogenase (ALDH) enzyme family, which plays a crucial role in the metabolism of both endogenous and exogenous aldehydes. Specifically, ALDH1A2 is responsible for the oxidation of retinaldehyde to retinoic acid, a biologically active form of vitamin A. This enzymatic conversion is essential for various developmental processes, including embryogenesis, tissue patterning, and organogenesis, by regulating gene expression and cellular differentiation through retinoic acid signaling pathways. ALDH1A2 expression is particularly prominent in tissues undergoing active morphogenesis, such as the developing limb buds, central nervous system, and sensory organs....

ALDH1A2

EIF4G3 (Eukaryotic Translation Initiation Factor 4 Gamma 3): EIF4G3 plays a crucial role in the initiation phase of protein synthesis. As part of the eIF4F complex, it helps in recruiting ribosomes to mRNA for translation, facilitating the synthesis of proteins. EIF4G3's function is essential for cellular growth and differentiation, and dysregulation can impact protein production, potentially leading to diseases including cancers where protein synthesis is often dysregulated....

EIF4G3

ALDH2 (Aldehyde Dehydrogenase 2 Family Member): ALDH2 is crucial in alcohol metabolism, converting acetaldehyde to acetic acid. Variants, particularly common in East Asian populations, can lead to alcohol intolerance and are associated with an increased risk of certain cancers and cardiovascular diseases....

ALDH2

ALG13 (Asparagine-Linked Glycosylation 13): ALG13 is a gene encoding a subunit of the UDP-N-acetylglucosaminyltransferase complex, involved in the early stages of glycosylation. Glycosylation is a critical post-translational modification process where carbohydrates are attached to proteins or lipids, affecting their folding, stability, and function. ALG13 plays a crucial role in the biosynthesis of the glycan precursor, essential for proper protein glycosylation in the endoplasmic reticulum. Mutations in the ALG13 gene have been linked to congenital disorders of glycosylation, which can result in a wide range of clinical symptoms, including developmental delay, epilepsy, and metabolic abnormalities. This highlights the gene's importance in...

ALG13

ELAVL2 (ELAV Like RNA Binding Protein 2): ELAVL2 is an RNA-binding protein that is involved in post-transcriptional regulation of gene expression. It is a member of the ELAVL family and plays a role in mRNA stabilization and translation. ELAVL2 has been associated with neurodevelopmental disorders and neurological conditions....

ELAVL2

ELFN2 (Extracellular Leucine-Rich Repeat and Fibronectin Type III Domain Containing 2): ELFN2 is a gene that encodes a protein with leucine-rich repeat and fibronectin type III domains. These domains suggest its involvement in cell adhesion, signaling, and interactions with the extracellular matrix. ELFN2's functions in neural development and synaptic plasticity are of particular interest, as it may play a role in modulating neuronal connections in the brain....

ELFN2

ALOX15 (Arachidonate 15-Lipoxygenase): ALOX15, or arachidonate 15-lipoxygenase, is an enzyme that catalyzes the oxygenation of polyunsaturated fatty acids in lipids. It is implicated in the biosynthesis of bioactive lipid mediators that are involved in inflammatory and immune responses. ALOX15's activity is crucial in the metabolism of arachidonic acid to produce leukotrienes and lipoxins, compounds that have both pro-inflammatory and anti-inflammatory effects. The enzyme's function is significant in the pathophysiology of diseases such as asthma, atherosclerosis, and cancer. Variations in the ALOX15 gene can influence the enzyme's expression and activity, affecting an individual's susceptibility to these diseases....

ALOX15

ALOX5AP (Arachidonate 5-Lipoxygenase-Activating Protein): ALOX5AP encodes a protein that plays a role in the activation of the enzyme arachidonate 5-lipoxygenase (ALOX5). ALOX5 is involved in the metabolism of arachidonic acid and the production of leukotrienes, which are inflammatory mediators. Variations in ALOX5AP have been associated with cardiovascular diseases and asthma....

ALOX5AP

ENG (Endoglin): ENG is a glycoprotein involved in vascular development and remodeling. It is a component of the TGF-beta receptor complex and plays a critical role in angiogenesis. Mutations in ENG are associated with hereditary hemorrhagic telangiectasia, a disorder that leads to the development of abnormal blood vessels....

ALPK1 (Alpha Kinase 1): ALPK1 is a kinase involved in the regulation of various cellular processes, including inflammation and immune responses. It has been linked to the pathogenesis of chronic inflammatory diseases and is a potential target for therapeutic intervention in such conditions....

ALPK1

ALPL (Alkaline Phosphatase, Liver/Bone/Kidney): ALPL encodes an enzyme involved in dephosphorylation processes, crucial for bone mineralization. Mutations can lead to hypophosphatasia, a disorder affecting bone development. Its activity is also important in liver function and overall mineral metabolism....

ALPL

AMBRA1 (Autophagy and Beclin 1 Regulator 1): AMBRA1 is a key regulator of autophagy, a critical cellular process for degrading and recycling cellular components. It plays a vital role in the autophagic response to cellular stress, promoting cell survival under adverse conditions. AMBRA1 interacts with BECN1 (Beclin 1) to initiate the formation of autophagosomes, essential for autophagy. Dysregulation of AMBRA1 has been linked to developmental abnormalities and neurodegenerative diseases, highlighting its importance in cellular homeostasis and disease prevention....

AMBRA1

AMN1 (Amnion Associated Transmembrane Protein 1): AMN1 is a gene that codes for a transmembrane protein associated with the amnion, a critical membrane surrounding the developing fetus during pregnancy. While its precise functions are still under investigation, research suggests its involvement in amniotic fluid regulation and potentially fetal development. AMN1's significance in prenatal physiology and its potential implications in congenital disorders make it a subject of continued scientific interest....

AMN1

AMY1A (Amylase, Alpha 1A): AMY1A encodes alpha-amylase, an enzyme important for the digestion of dietary starches. Variation in the copy number of AMY1A is linked to dietary adaptation and may influence digestive efficiency and metabolic health....


AMY1A

GOLT1A, also known as Golgi transport 1A protein, is a member of the Golgi transport family involved in the regulation of vesicular trafficking within cells, particularly in the context of the Golgi apparatus. The Golgi apparatus is a vital organelle responsible for processing, sorting, and modifying proteins and lipids synthesized in the endoplasmic reticulum (ER) before they are transported to their final destinations. While specific details about GOLT1A are limited, proteins within the Golgi transport family are often involved in mediating the movement of cargo vesicles between different compartments of the Golgi apparatus and between the Golgi apparatus and other cellular...

GOLT1A

RMI2 (RecQ Mediated Genome Instability 2): RMI2 is part of a protein complex involved in maintaining genomic stability, particularly in the repair of DNA double-strand breaks and in the resolution of DNA recombination structures. Its function is crucial in preventing genomic instability, a key factor in cancer development and progression....

RMI2

RELN (Reelin): RELN encodes a large secreted extracellular matrix protein named reelin, which is crucial for neuronal migration and positioning during brain development. It affects the layering of neurons in the cerebral cortex and cerebellum. Mutations or alterations in RELN expression have been implicated in several neuropsychiatric disorders, including autism, schizophrenia, and bipolar disorder. Reelin also plays a role in synaptic plasticity in the adult brain, impacting learning and memory....

RELN

CXCR2 (C-X-C Motif Chemokine Receptor 2): CXCR2 is a receptor for C-X-C motif chemokines, including CXCL5, and is primarily expressed on neutrophils. It plays a key role in mediating chemotactic responses and activating neutrophils during the inflammatory response. CXCR2 is involved in various pathological conditions, including inflammatory diseases, cancer, and chronic obstructive pulmonary disease (COPD), making it a target for therapeutic intervention in these disorders....

CXCR2

ACE (Angiotensin-Converting Enzyme): ACE is a crucial enzyme in the Renin-Angiotensin System (RAS), primarily involved in blood pressure regulation and fluid balance. It catalyzes the conversion of angiotensin I to angiotensin II, a potent vasoconstrictor, thereby playing a pivotal role in controlling vascular tone and electrolyte balance. Angiotensin II's effects include constriction of blood vessels, stimulation of aldosterone secretion, and elevation of blood pressure. Beyond its vasoactive functions, ACE has implications in various physiological and pathological processes, including heart function, kidney disease, and inflammatory responses. Dysregulation of ACE activity is associated with hypertension, heart failure, and renal diseases, making it...

ENOSF1 (Enolase Superfamily Member 1): ENOSF1, enolase superfamily member 1, is implicated in the cellular response to vitamin B2 (riboflavin) availability and is associated with the metabolism of cancer cells, particularly in how they adapt to varying nutrient conditions. Alterations in ENOSF1 expression have been studied in the context of tumor metabolism, suggesting a potential role in cancer progression and the development of targeted therapies that exploit metabolic vulnerabilities of cancer cells....

ENOSF1

ANAPC4 (Anaphase Promoting Complex Subunit 4): ANAPC4 is a component of the anaphase-promoting complex/cyclosome (APC/C), a key regulator of the cell cycle. It is involved in marking proteins for degradation, thus controlling the progression of cells through the cell cycle. Dysregulation of ANAPC4 can lead to cell cycle abnormalities, with potential implications for cancer development and progression....

ANAPC4

ANGPTL4 (Angiopoietin-Like 4): ANGPTL4, a member of the angiopoietin-like protein family, is a multifunctional protein involved in regulating lipid metabolism, angiogenesis, and inflammation. It exerts its effects through various mechanisms, including inhibition of lipoprotein lipase (LPL) activity, which leads to increased plasma triglyceride levels. Additionally, ANGPTL4 modulates angiogenesis by inhibiting endothelial cell migration and tube formation, thereby influencing vascular development and remodeling. Moreover, ANGPTL4 has been implicated in inflammation regulation through its interactions with inflammatory mediators and its role in tissue repair processes. Dysregulation of ANGPTL4 has been associated with metabolic disorders such as obesity, dyslipidemia, and insulin resistance, as...

ANGPTL4

ENOX1 (Ecto-NOX Disulfide-Thiol Exchanger 1): ENOX1 is involved in the transfer of electrons across the cell membrane and may play a role in cellular redox homeostasis. Its function is associated with cell growth regulation and the aging process, although its specific role in human physiology and pathology is not fully understood....

ENOX1

ANKH (Ankylosis Homolog): ANKH is associated with a genetic disorder called familial chondrocalcinosis, which leads to the deposition of calcium crystals in joints, resulting in painful arthritis. ANKH encodes a protein that is involved in the regulation of extracellular inorganic pyrophosphate levels, which can influence joint health and mineralization of cartilage and bone tissues....

ANKH

ENPEP (Glutamyl Aminopeptidase): ENPEP encodes an enzyme known as glutamyl aminopeptidase, which plays a crucial role in blood pressure regulation and fluid balance in the body. This enzyme is involved in the angiotensin pathway, a key regulator of blood pressure, by processing angiotensin II, a potent vasoconstrictor. Alterations or dysfunctions in ENPEP have implications in hypertension and cardiovascular diseases, making it a target for research in these areas....

ENPEP

ANKRD30A (Ankyrin Repeat Domain 30A): ANKRD30A encodes a protein with ankyrin repeat domains, which are known for their role in protein-protein interactions. It's particularly noted for its expression in breast tissue and has been implicated in breast cancer biology, possibly serving as a biomarker or therapeutic target in breast cancer research and treatment....

ANKRD30A

ENPP4 (Ectonucleotide Pyrophosphatase/Phosphodiesterase 4): ENPP4 is a member of the ectonucleotide pyrophosphatase/phosphodiesterase (ENPP) family of enzymes, which play important roles in purinergic signaling and phosphate homeostasis. ENPP4 specifically functions as both a phosphodiesterase, catalyzing the hydrolysis of phosphodiester bonds, and a pyrophosphatase, cleaving pyrophosphate bonds. It is predominantly expressed in tissues such as the kidney, liver, and brain, where it participates in various physiological processes including bone mineralization, lipid metabolism, and regulation of extracellular nucleotide levels. ENPP4 has also been implicated in modulating immune responses and inflammation through its interaction with purinergic receptors. Dysregulation of ENPP4 activity has been associated...

ENPP4

EPAS1 (Endothelial PAS Domain Protein 1): Also known as HIF-2alpha, EPAS1 is a transcription factor that responds to low oxygen levels in tissues. It plays a significant role in the physiological adaptation to hypoxia, regulating genes involved in erythropoiesis, iron metabolism, and vascularization. EPAS1 is implicated in high-altitude adaptation and various diseases, including certain cancers....

EPAS1

EPB41L4A (Erythrocyte Membrane Protein Band 4.1 Like 4A): EPB41L4A encodes a protein involved in cytoskeletal organization and membrane stability. It plays a role in maintaining the structural integrity of cells, including red blood cells. Mutations in this gene can lead to disorders affecting red blood cell morphology....

EPB41L4A

EPDR1 (Epidermal growth factor receptor pathway substrate 15-related protein 1): Similar to MMP15's role in extracellular matrix (ECM) dynamics, EPDR1 is implicated in cellular signaling pathways that regulate various physiological processes, including cell proliferation, survival, and differentiation. As a member of the epidermal growth factor receptor (EGFR) pathway substrate family, EPDR1 interacts with key signaling molecules involved in growth factor signaling cascades, modulating downstream signaling events. This protein plays a critical role in mediating cellular responses to extracellular stimuli, such as growth factors and cytokines, thereby influencing cell fate decisions and tissue homeostasis. Dysregulation of EPDR1 expression or activity has...

EPDR1

EPHA5 (EPH Receptor A5): EPHA5 is part of the ephrin receptor subfamily of protein-tyrosine kinases, which play critical roles in developmental processes, particularly in the nervous system. EPHA5 and its ligands are involved in mediating developmental events, such as neuronal migration and axon guidance. Dysregulation of EPHA5 signaling has been implicated in neurodevelopmental disorders and cancer. Studies on EPHA5 seek to understand its role in neural development and explore its potential as a therapeutic target in neurological diseases and cancer....

EPHA5

ANO3 (Anoctamin 3): ANO3 encodes a calcium-activated chloride channel, which is significant in smooth muscle function and neurological processes. Mutations in ANO3 are associated with movement disorders, particularly dystonia, a condition characterized by involuntary muscle contractions and spasms, indicating its role in neuromuscular signaling and function....

ANO3

AOC1 (Amine Oxidase, Copper Containing 1): AOC1, also known as diamine oxidase, is involved in the metabolism of histamine and polyamines. It plays a role in the regulation of histamine levels and is important in allergic responses, gastrointestinal function, and immune regulation....


AOC1

AP2A2 (Adaptor-Related Protein Complex 2 Alpha 2 Subunit): AP2A2 is part of the AP-2 adaptor complex, crucial for clathrin-mediated endocytosis. This process is vital for cellular internalization of receptors and other proteins, impacting cell signaling and nutrient uptake. Dysregulation of AP2A2 can affect neuronal development and synaptic function, with potential implications in neurological disorders....

AP2A2

AP3B2 (Adaptor-Related Protein Complex 3 Subunit Beta 2): AP3B2 is a subunit of the Adaptor-Related Protein Complex 3 (AP-3) involved in intracellular vesicle trafficking. It plays a crucial role in sorting cargo proteins to lysosomes and related organelles. Mutations in AP3B2 can lead to Hermansky-Pudlak syndrome, a disorder characterized by defects in pigmentation and platelet function....

AP3B2

APBB1IP (Amyloid Beta Precursor Protein-Binding Family B Member 1 Interacting Protein): APBB1IP, also known as RIAM (Rap1-GTP-interacting adaptor molecule), plays a critical role in integrin activation, a key process in cell adhesion and migration. By linking Rap1 GTPases to the actin cytoskeleton, APBB1IP facilitates cell adhesion to the extracellular matrix, impacting immune cell function, tumor metastasis, and wound healing. Its role in these processes makes it a subject of interest for research into immune response regulation and cancer....

APBB1IP

EPHB2 (Ephrin Type-B Receptor 2): EPHB2, a member of the Eph receptor tyrosine kinase family, plays a pivotal role in mediating cell-cell communication and tissue organization. Through its interactions with ephrin ligands, EPHB2 regulates diverse processes such as cell migration, adhesion, and axon guidance during development and adulthood. This receptor is integral to the maintenance of tissue architecture and function, particularly in the nervous system and epithelial tissues. Dysregulation of EPHB2 signaling has been implicated in various pathological conditions including cancer progression, neurodevelopmental disorders, and tissue malformation. The intricate balance of EPHB2 activity underscores its significance in orchestrating cellular dynamics...

EPHB2

APOA1 (Apolipoprotein A-I): APOA1 is the major protein component of HDL in plasma and plays a central role in cholesterol transport and metabolism. It facilitates the removal of cholesterol from tissues to the liver for excretion. Variations in APOA1 are associated with changes in HDL levels and risks of cardiovascular disease....

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