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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

NSMCE1 (Nonspecific Mitochondrial Enzyme 1): NSMCE1 is a gene that encodes a protein involved in maintaining mitochondrial DNA integrity. It plays a role in the repair and replication of mitochondrial DNA, supporting proper mitochondrial function and energy production in cells.

NSMCE1

CA2 (Carbonic Anhydrase II): CA2 is a gene that encodes an enzyme vital for regulating pH and fluid balance in various tissues, including the kidney. It catalyses the reversible hydration of carbon dioxide, supporting respiratory gas exchange and acid-base balance. Mutations in CA2 can impact bone and kidney function, leading to conditions such as osteopetrosis and renal tubular acidosis.

P2RY12 (Purinergic Receptor P2Y12): P2RY12 is a receptor for adenosine diphosphate (ADP) that plays a crucial role in platelet aggregation — a vital process in blood clot formation. It is the primary target for antiplatelet drugs used to prevent thrombosis in cardiovascular diseases. Understanding P2RY12 is essential for maintaining cardiovascular health and managing clotting disorders.

P2RY12

TOMM40 (Translocase of Outer Mitochondrial Membrane 40): TOMM40 is a crucial protein involved in mitochondrial function, specifically in the import of proteins into the mitochondria. As part of the TOM complex, TOMM40 facilitates the transport of nuclear-encoded proteins across the outer mitochondrial membrane, enabling them to perform essential functions within the mitochondria. Variants of TOMM40 are significantly associated with Alzheimer's disease, affecting both risk and age of onset. It is also linked to other neurodegenerative disorders and cognitive decline related to ageing.

TOMM40

RABGAP1L (RAB GTPase Activating Protein 1-Like): RABGAP1L is a gene that codes for a protein involved in intracellular membrane trafficking through the regulation of RAB GTPases. It plays a crucial role in vesicle transport and overall cellular logistics. Dysregulation of RABGAP1L can disrupt cellular transport mechanisms and has been researched in the context of neurological disorders, where accurate membrane trafficking is vital for neuronal function.

RABGAP1L

C6ORF47 (Chromosome 6 Open Reading Frame 47): C6ORF47 is a gene located on chromosome 6 that is relatively less characterised. As an open reading frame, it may encode a protein, though its precise functions remain unclear. Research on C6ORF47 could reveal new insights into cellular processes and help expand our understanding of the human genome.

C6ORF47

PKD2L1 (Polycystic Kidney Disease 2-Like 1): PKD2L1 is a transmembrane protein from the polycystic kidney disease family, predominantly found in sensory neurons of the peripheral nervous system and specific epithelial cells. It plays a crucial role in chemosensation and mechanosensation, particularly in detecting sour taste. Functioning as a non-selective cation channel, PKD2L1 facilitates ion influx in response to extracellular stimuli, initiating cellular responses. It is also involved in functions such as gastrointestinal sensory signaling and regulation of blood pressure.

PKD2L1

MYEOV (Myeloma Overexpressed Gene): MYEOV is a gene frequently overexpressed in multiple myeloma and other cancers. It is believed to play a role in cancer cell proliferation and survival, making it a potential target for cancer treatment.

MYEOV

LPCAT2 (Lysophosphatidylcholine Acyltransferase 2): LPCAT2 is an enzyme that plays a vital role in the biosynthesis and remodeling of phospholipids, essential components of cellular membranes. Predominantly found in the endoplasmic reticulum, LPCAT2 regulates lipid metabolism and helps preserve membrane integrity. It catalyses the acylation of lysophosphatidylcholine (LPC) to form phosphatidylcholine (PC), a key phospholipid in cell membranes, impacting membrane composition and function.

LPCAT2

MYO18A (Myosin XVIIIA): MYO18A is a protein that represents a distinctive type of myosin in the body. It plays crucial roles in cytoskeleton organization and cell migration, contributing to muscle development and function. Abnormalities in MYO18A are linked to muscle disorders and may be associated with certain types of cancer.

MYO18A

ID4 (Inhibitor Of DNA Binding 4, HLH Protein): ID4 is a regulator that influences gene transcription by controlling cell differentiation and proliferation. It belongs to the ID protein family, which modulates various developmental processes by inhibiting the binding of basic helix-loop-helix (bHLH) transcription factors. ID4 is involved in the development of several cancers, where it can function either as a tumour suppressor or an oncogene depending on the context. Studying ID4 provides important insights into cellular differentiation, stem cell biology, and cancer.

MCUR1 (Mitochondrial Calcium Uniporter Regulator 1): MCUR1 is a gene that regulates the mitochondrial calcium uniporter (MCU), a protein complex responsible for calcium uptake into mitochondria. MCUR1 plays a crucial role in maintaining proper mitochondrial calcium levels, which are vital for energy production, cell survival, and overall mitochondrial function.

MCUR1

PWWP3B (PWWP Domain Containing 3B): PWWP3B is a gene that encodes a protein involved in chromatin organisation and gene regulation. Its PWWP domain indicates a role in epigenetic regulation. Dysfunction of PWWP3B may be associated with developmental disorders and cancers due to its effect on gene expression.

PWWP3B

POU2F3 (POU Class 2 Homeobox 3): POU2F3 is a transcription factor that regulates the differentiation of epithelial cells, particularly in the skin and sensory organs. It is essential for the formation of tuft cells — specialised chemosensory cells in the respiratory and digestive tracts — and is also associated with the development of certain squamous cell carcinomas.

POU2F3

OLFM4 (Olfactomedin 4): OLFM4 is a gene that encodes a secreted protein expressed in various tissues, including the gastrointestinal tract. While its functions are not fully understood, OLFM4 is linked to the regulation of stem cell proliferation and differentiation in the gut, indicating a possible role in tissue regeneration and maintenance.

OLFM4

LURAP1 (Leucine Rich Adaptor Protein 1): LURAP1 is a gene that encodes a leucine-rich protein believed to be involved in signal transduction pathways. While its exact functions are not fully understood, LURAP1 may play a role in regulating cellular processes such as cell migration and cytoskeletal organisation.

LURAP1

CPXM1 (Carboxypeptidase X, M14 Family Member 1): CPXM1 is a protein belonging to the metallo-carboxypeptidase family and plays a role in extracellular matrix remodeling. It aids in cell adhesion, migration, and essential physiological processes such as wound healing and inflammation. Dysregulation of CPXM1 may be associated with tissue remodeling disorders and certain types of cancer.

CPXM1

RGS7 (Regulator of G Protein Signaling 7): RGS7 is a protein that regulates G protein-coupled receptors (GPCRs) and modulates their signalling pathways. It plays an important role in neuronal function and has been linked to various neurological disorders.

RGS7

APOE (Apolipoprotein E): APOE is a protein mainly produced by the liver and astrocytes in the brain, playing a crucial role in lipid metabolism and transport, particularly within the central nervous system (CNS). It facilitates the clearance of lipoproteins from the bloodstream and redistributes cholesterol and other lipids to cells through interactions with cell surface receptors. APOE has three common isoforms—APOE2, APOE3, and APOE4—each influencing lipid metabolism differently, with APOE4 having specific implications for disease risk.

APOE

TTYH2 (Tweety Family Member 2): TTYH2 is a gene that encodes a protein belonging to the Tweety family. This protein is known to have ion channel activity, particularly involving chloride ions. Proteins in the Tweety family play important roles in ion transport across cell membranes, contributing to cellular homeostasis, regulation of cell volume, and maintenance of ion balance. While the full functions of TTYH2 are still under investigation, it may have significant roles in cellular physiology.

TTYH2

MXRA8 (Matrix Remodeling-Associated Protein 8): MXRA8 is a gene that encodes a protein involved in matrix remodeling, a crucial process for tissue development and repair. Although its precise functions are still under investigation, MXRA8’s role in extracellular matrix interactions indicates it may support tissue homeostasis and regeneration, with potential applications in tissue engineering and regenerative medicine.

MXRA8

ORM1, also known as Orosomucoid 1 or Alpha-1-acid glycoprotein 1, is a glycoprotein primarily produced in the liver and released into the bloodstream. It is part of the acute-phase reactant proteins, which are synthesized in response to inflammation, infection, or tissue injury. ORM1 plays a key role in modulating the immune response and inflammation. During acute-phase reactions, its production is increased by pro-inflammatory cytokines, such as interleukin-6 (IL-6) and tumour necrosis factor-alpha (TNF-α). ORM1 helps regulate inflammation by binding to various molecules, including drugs, hormones, and lipids, and influencing their distribution.

ORM1

TCF12 (Transcription Factor 12): TCF12 is a member of the basic helix-loop-helix (bHLH) transcription factor family, involved in regulating gene expression during development and cell differentiation. TCF12 plays a key role in nervous system and muscle tissue development, influencing cell fate decisions and tissue formation. Mutations in TCF12 are associated with craniosynostosis, a condition marked by the premature fusion of skull bones, highlighting its importance in craniofacial development. Studying TCF12 provides valuable insights into developmental biology and the genetic basis of congenital disorders.

TCF12

TGFB2 (Transforming Growth Factor Beta 2): TGFB2 is a cytokine that plays a key role in regulating cell growth, proliferation, differentiation, and apoptosis. It is essential for embryonic development and tissue repair and has been linked to various conditions, including cancer and fibrotic diseases.

TGFB2

ZNF516 (Zinc Finger Protein 516): ZNF516 is a transcriptional regulator that can function as either a repressor or activator in gene expression pathways governing cell differentiation, proliferation, and apoptosis. It plays an essential role in cardiac development and function, with its dysregulation linked to cardiovascular diseases. ZNF516 is also associated with tumor suppression, making it a potential target in cancer therapy and a key factor in maintaining cellular homeostasis.

ZNF516

SCIN (Scinderin): SCIN is a gene that encodes an actin-severing protein involved in regulating actin cytoskeleton dynamics. By modulating actin filament organisation, SCIN plays a role in cellular processes such as cell motility, secretion, and membrane trafficking. While its exact mechanisms are still being studied, SCIN may influence physiological functions and pathological processes, including cell migration and invasion in cancer.

SCIN

PDE3B (Phosphodiesterase 3B): PDE3B is an enzyme that plays a crucial role in regulating lipid and glucose metabolism. It is involved in breaking down cyclic AMP (cAMP), a signalling molecule, thereby influencing processes such as lipolysis and insulin secretion. Dysregulation of PDE3B has implications for metabolic disorders, including obesity and diabetes.

PDE3B

LONP2 (Lon Peptidase 2, Mitochondrial): LONP2 is a protein that represents mitochondrial quality control within the cell. It encodes a mitochondrial protease responsible for breaking down damaged or misfolded mitochondrial proteins. Proper functioning of LONP2 is crucial for maintaining mitochondrial health, and dysfunction can contribute to mitochondrial disorders and diseases related to aging.

LONP2

LRRC4C (Leucine Rich Repeat Containing 4C): LRRC4C is a protein, also known as NGL-1, that plays a role in neural development, particularly in the formation and regulation of synaptic connections. It has been studied for its potential involvement in neurodevelopmental disorders.

LRRC4C

NRG1 (Neuregulin 1): NRG1 is a signaling protein that plays a crucial role in neural development and synaptic plasticity. It is vital for the proper formation and functioning of the nervous system and has been linked to various neurological and psychiatric conditions, including schizophrenia.

NRG1

PDE8B (Phosphodiesterase 8B): PDE8B is a gene that encodes the phosphodiesterase 8B enzyme. Similar to PDE10A, it helps regulate cyclic nucleotide signaling, although its functions may vary across different tissues and cell types. PDE8B may impact a range of physiological processes.

PDE8B

INPPL1 (Inositol Polyphosphate Phosphatase-Like 1): INPPL1, also known as SHIP2 (Src Homology 2 domain-containing Inositol Phosphatase 2), is an enzyme crucial for regulating phosphoinositide signaling pathways in the body. These pathways are vital for controlling cellular functions such as proliferation, survival, and migration. INPPL1 specifically removes a phosphate group from the 5' position of phosphatidylinositol 3,4,5-trisphosphate (PIP3), serving as a negative regulator of the PI3K (phosphoinositide 3-kinase) signaling pathway. Its function is essential for modulating insulin signaling and maintaining glucose homeostasis, making it a key player in metabolic regulation and a promising therapeutic target.

INPPL1

TIMP4 (TIMP Metallopeptidase Inhibitor 4): TIMP4 is a protein that regulates metalloproteinases, enzymes responsible for breaking down components of the extracellular matrix. TIMP4 plays a key role in tissue remodeling and is important for processes such as wound healing and angiogenesis.

TIMP4

AFF3 (AF4/FMR2 परिवार के सदस्य 3): AFF3 एक जीन है जो ट्रांसक्रिप्शन नियंत्रण और क्रोमेटिन संगठन में शामिल है। यह AF4/FMR2 परिवार से संबंधित है, जो जीन अभिव्यक्ति को नियंत्रित करने में भूमिका निभाता है। AFF3 जीन ट्रांसक्रिप्शन को नियंत्रित करने में मदद कर सकता है, जिससे विभिन्न कोशिका प्रकारों के विकास और कार्यप्रणाली पर प्रभाव पड़ता है।

AFF3

PTPRM (Protein Tyrosine Phosphatase Receptor Type M): PTPRM is a receptor-type protein tyrosine phosphatase involved in cell signalling and regulation of tyrosine phosphorylation. It contributes to processes such as cell adhesion, migration, and neuronal development. Dysregulation of PTPRM has been linked to cancer progression and certain neuronal disorders.

PTPRM

NAV3 (Neuron Navigator 3): NAV3 is a gene involved in neuronal migration and axonal guidance, playing a crucial role in brain development. As a member of the neuron navigator family, it supports the proper formation of neural networks. Alterations in NAV3 have been linked to neurological disorders such as Alzheimer’s disease and schizophrenia, underscoring its significance in maintaining neural structure and function.

NAV3

LIN7C (Lin-7 Homolog C, Crumbs Cell Polarity Complex Component): LIN7C is a protein that represents the function of the LIN7 family in establishing and maintaining cell polarity. It is crucial for proper cell functioning and tissue organisation, especially in neural and epithelial cells. Mutations or dysregulation of LIN7C can disturb cell polarity and signalling, potentially leading to developmental abnormalities or disease.

LIN7C

MUC1 (Mucin 1): MUC1 is a gene that encodes a glycoprotein found on the surface of various epithelial cells, including those lining the respiratory and digestive tracts. It plays key roles in protection, lubrication, and cell signalling. Abnormal expression of MUC1 is associated with the development of several cancers.

MUC1

PDGFB (Platelet-Derived Growth Factor Subunit B): PDGFB is a gene that encodes a key growth factor involved in cell signalling and tissue repair. As part of the platelet-derived growth factor (PDGF) family, it plays an essential role in promoting cell proliferation, migration, wound healing, tissue remodelling, and the formation of new blood vessels (angiogenesis).

PDGFB

NRXN1 (Neurexin 1): NRXN1 is a neuronal cell adhesion molecule that signifies its role in synapse formation and function. It is essential for proper neural communication and has been linked to several neurodevelopmental disorders, including autism spectrum disorder, schizophrenia, and intellectual disability.

NRXN1

PRRC2A (Proline-Rich Coiled-Coil 2A): PRRC2A is a protein-coding gene involved in crucial cellular processes such as cell division and gene regulation. It contains proline-rich domains and coiled-coil regions that are vital for protein-protein interactions. Although its exact functions are still under investigation, PRRC2A is linked to certain cancers and may affect cell growth and differentiation.

PRRC2A

TOX3 (TOX High Mobility Group Box Family Member 3): TOX3 is a member of the high mobility group (HMG) box family and plays a role in transcriptional regulation. It has been studied in connection with breast cancer, as genetic variants in TOX3 have been linked to an increased risk of developing the disease.

TOX3

MRPS31 (Mitochondrial Ribosomal Protein S31): MRPS31 is a part of the mitochondrial ribosome, essential for mitochondrial protein synthesis. It plays a crucial role in producing proteins necessary for proper mitochondrial function and energy production. Defects in MRPS31 can lead to mitochondrial disorders affecting multiple body systems.

MRPS31

NUDT2 (Nudix Hydrolase 2): NUDT2 is an enzyme that regulates the balance of diadenosine polyphosphates, molecules involved in cellular signalling. It plays a key role in maintaining proper levels of these signalling molecules, which is important for various cellular processes, including stress responses and energy metabolism.

NUDT2

CAMK1G (Calcium/Calmodulin-Dependent Protein Kinase IG): CAMK1G is a member of the CaMK kinase family involved in calcium signalling pathways. This kinase is activated by calcium influx and calmodulin binding, triggering the phosphorylation of various proteins that regulate processes such as gene expression, cell cycle progression, and synaptic transmission. CAMK1G plays a key role in neuronal function and plasticity, contributing to learning and memory. Dysregulation of CAMK1G activity has been linked to neurological disorders, highlighting its critical role in maintaining neuronal health and signalling balance.

CAMK1G

CCDC171 (Coiled-Coil Domain Containing 171): CCDC171 is a gene marked by the presence of a coiled-coil domain, indicating a potential role in protein-protein interactions. Although its precise function is not completely understood, genes with similar domains are typically involved in cellular activities such as vesicle transport, cell division, and signal transduction.

CCDC171

ARHGAP27 (Rho GTPase Activating Protein 27): ARHGAP27 is a protein that regulates actin cytoskeleton dynamics, cell morphology, and motility by controlling Rho GTPases. These GTPases are crucial regulators of cellular processes such as vesicle trafficking, cell cycle progression, and gene transcription. ARHGAP27’s role in modulating cell adhesion and migration is especially vital for tissue development, wound healing, and processes like tumor progression and metastasis.

ARHGAP27

KLF14 (Krüppel-Like Factor 14): KLF14 is a transcription factor belonging to the Krüppel-like factor family that regulates gene expression associated with essential cellular processes. It plays a crucial role in metabolic regulation, especially in adipocyte differentiation and lipid metabolism, influencing how the body stores and utilises fats. KLF14 also aids in maintaining glucose balance and insulin sensitivity, with its dysregulation being linked to metabolic disorders such as obesity and type 2 diabetes.

KLF14

INSIG1 (Insulin-Induced Gene 1): INSIG1 is a protein encoded by the INSIG1 gene that plays a crucial role in regulating lipid metabolism and cholesterol balance within cells. INSIG1 functions as a vital mediator of the feedback mechanism controlling cholesterol synthesis and uptake. It works by binding to and inhibiting sterol regulatory element-binding proteins (SREBPs), which are transcription factors essential for expressing genes involved in cholesterol and fatty acid production. By regulating SREBP activity, INSIG1 helps maintain proper cellular lipid levels and prevents excessive cholesterol accumulation.

INSIG1

TCERG1L (Transcription Elongation Regulator 1-Like): TCERG1L is a protein involved in regulating gene transcription, especially during the elongation phase of RNA polymerase II activity. It plays a crucial role in ensuring precise gene expression and affects the transcription of specific genes, thereby influencing cellular processes such as development and stress response. Understanding TCERG1L helps elucidate the mechanisms of gene regulation and their connection to diseases associated with transcriptional dysregulation.

TCERG1L

PTHLH (Parathyroid Hormone Like Hormone): PTHLH is a protein critical for the development of bone and cartilage. It functions similarly to parathyroid hormone and plays a role in regulating bone remodeling and maintaining calcium balance.

PTHLH

CELF2 (CUGBP Elav-Like Family Member 2): CELF2 is a member of the CUG-BP, Elav-like family of RNA-binding proteins, which play essential roles in regulating RNA processing, including alternative splicing, stability, and translation. CELF2 is involved in immune system development and function and has been linked to neurological disorders. Its role in post-transcriptional gene regulation makes it an important factor in cell differentiation and disease development, presenting potential targets for therapeutic intervention.

CELF2

MFSD10 (Major Facilitator Superfamily Domain-Containing Protein 10): MFSD10 is a gene that encodes a protein involved in transport processes across cell membranes. While its specific function is still under investigation, MFSD10 may play a role in nutrient transport and maintaining cellular homeostasis.

MFSD10 

RAP2B (RAP2B, Member of RAS Oncogene Family): RAP2B is a gene that is part of the RAS oncogene family and is involved in intracellular signalling pathways that regulate cell proliferation, differentiation, and survival. It also plays a role in cytoskeletal organisation and vesicle trafficking. Disruptions in RAP2B signalling may contribute to the development of cancer.

RAP2B

KCNMB3 (Potassium Calcium-Activated Channel Subfamily M Regulatory Beta Subunit 3): KCNMB3 is a member of the calcium-activated potassium channels family that plays a role in regulating neuronal excitability and vascular tone. This gene is crucial for the control of blood pressure and cardiovascular function, with variations in KCNMB3 potentially linked to hypertension and heart disease.

KCNMB3

MAP3K10 (Mitogen-Activated Protein Kinase Kinase Kinase 10): MAP3K10 is a member of the MAP3K family, also known as MLK2 (Mixed Lineage Kinase 2). This kinase plays a key role in cellular signaling pathways that regulate cell proliferation, differentiation, and apoptosis. MAP3K10 acts as an upstream activator of the MAP kinase (MAPK) cascade, translating extracellular signals into cellular responses. It is essential for neuronal function, immune regulation, and stress response, and dysregulation of MAP3K10 has been linked to various physiological and pathological conditions.

MAP3K10

INAVA (Innate Immune Signal Activator): INAVA is a gene involved in regulating the NF-kappaB signaling pathway, a key driver of the body’s innate immune responses. It plays an important role in activating immune cells and promoting the production of inflammatory mediators, helping the body defend against pathogens and manage inflammation.

INAVA

OPCML (Opioid Binding Protein/Cell Adhesion Molecule Like): OPCML is a glycosylphosphatidylinositol-anchored protein that plays a role in cell adhesion and signaling. It has been identified as a tumour suppressor, with its expression often reduced in various cancers, indicating a protective role against tumour development and progression.

OPCML

CLOCK (Circadian Locomotor Output Cycles Kaput): CLOCK is a gene that plays a vital role in regulating circadian rhythms — the physical, mental, and behavioural changes that follow a 24-hour cycle. It helps control sleep-wake patterns and various physiological processes, including metabolism. Mutations in the CLOCK gene can disrupt normal circadian rhythms, contributing to sleep disorders, metabolic syndrome, and mood disturbances.

CLOCK

SCN9A (Sodium Voltage-Gated Channel Alpha Subunit 9): SCN9A encodes a voltage-gated sodium channel (NaV1.7) that is predominantly expressed in the peripheral nervous system, especially in pain-sensing neurons (nociceptors). Mutations in SCN9A can result in gain- or loss-of-function effects, causing conditions such as erythromelalgia or congenital insensitivity to pain. As a key regulator of pain sensation, NaV1.7 is a crucial target for developing new pain-relief medications.

SCN9A

CDKN2B (Cyclin-Dependent Kinase Inhibitor 2B): CDKN2B is a gene that plays a crucial role in regulating the cell cycle by inhibiting cyclin-dependent kinases. It is vital for controlling the G1 phase of the cell cycle and preventing uncontrolled cell proliferation. Loss of CDKN2B function is commonly seen in various cancers, underscoring its role as a tumour suppressor and its potential as a target for cancer therapies.

CDKN2B

TNFAIP3 (TNF Alpha Induced Protein 3): TNFAIP3, also known as A20, is a crucial negative regulator of NF-κB signaling, aiding in the control of inflammation and immune responses. It functions by ubiquitinating signaling molecules to halt NF-κB activation, thereby preventing prolonged inflammation that may result in autoimmune diseases. Mutations or dysregulation of TNFAIP3 are associated with various autoimmune and inflammatory disorders, making it a significant target in therapeutic research.

TNFAIP3

MTHFD1 (Methylenetetrahydrofolate Dehydrogenase 1): MTHFD1 is a crucial enzyme in the folate metabolism pathway, catalysing the conversion of tetrahydrofolate (THF) derivatives into forms utilised for synthesising DNA, RNA, and amino acids. It plays an essential role in one-carbon metabolism, affecting cellular methylation reactions and nucleotide production. Mutations or dysregulation of MTHFD1 can disrupt folate metabolism and are linked to a higher risk of congenital defects, cardiovascular diseases, and cancer.

MTHFD1

MTHFD2 (Methylenetetrahydrofolate Dehydrogenase 2): MTHFD2 is an enzyme that plays a crucial role in the mitochondrial one-carbon metabolic pathway. It is vital for nucleotide biosynthesis, methylation reactions, and amino acid balance. MTHFD2 is highly expressed in rapidly dividing cells, including cancer cells, where it aids the production of purines and thymidylate, essential for DNA replication and repair. Its function in cellular metabolism and proliferation highlights its significance in growth and development, and its selective expression in tumours makes it a potential therapeutic target.

MTHFD2

PDE5A (Phosphodiesterase 5A): PDE5A is a gene that encodes an enzyme specifically targeting cyclic GMP (cGMP), a key second messenger in various biological processes. PDE5A plays an important role in regulating vascular smooth muscle, and its inhibitors are commonly used to treat erectile dysfunction and pulmonary hypertension. Research on PDE5A is significant for cardiovascular and urogenital health.

PDE5A

LANCL1 (LanC Like 1): LANCL1 is a gene that encodes a protein containing LanC (Lantibiotic Synthetase Component C-like) domains. Proteins with these domains are often involved in key cellular processes, including signal transduction, protein-protein interactions, and cellular regulation. The precise functions of LANCL1 are still being studied, and further research is needed to fully understand its role in cellular biology.

LANCL1

LAMP3 (Lysosomal Associated Membrane Protein 3): LAMP3 is a protein involved in lysosomal function and cell signaling. It plays a key role in the immune response, particularly in antigen presentation. Elevated levels of LAMP3 have been observed in various types of cancers, indicating a potential role in tumour progression and metastasis.

LAMP3

PTPN22 (Protein Tyrosine Phosphatase, Non-Receptor Type 22): PTPN22 is an enzyme that reflects the regulation of immune responses in the body. It is a lymphoid-specific phosphatase that modulates T-cell receptor signaling and acts as a negative regulator of T-cell activation. PTPN22 is essential for maintaining immune tolerance and preventing autoimmune diseases. Genetic variations in PTPN22 have been associated with an increased risk of autoimmune diseases such as rheumatoid arthritis, type 1 diabetes, and systemic lupus erythematosus, highlighting its central role in immune regulation.

PTPN22

TPH2 (Tryptophan Hydroxylase 2): TPH2 is an enzyme that is crucial for the production of serotonin, a neurotransmitter that helps regulate mood, sleep, and appetite. TPH2 is primarily found in the brain and is key to central serotonin synthesis. Variations in the TPH2 gene have been associated with psychiatric disorders such as depression and bipolar disorder.

TPH2

OR5H14 (Olfactory Receptor Family 5 Subfamily H Member 14): OR5H14 is part of the olfactory receptor (OR) gene family, which is responsible for detecting and binding odor molecules. These receptors play a key role in the sense of smell. The specific ligands and precise function of OR5H14 in olfaction are not yet fully understood, but it contributes to the complexity and diversity of smell perception.

OR5H14

RHOBTB1 (Rho-Related BTB Domain Containing 1): RHOBTB1 is a member of the Rho GTPase family, involved in regulating diverse cellular processes such as cytoskeletal organisation, cell cycle progression, and gene expression. Unlike typical Rho GTPases, it has a distinctive structure that suggests roles in vesicular trafficking and signal transduction. Dysregulation of RHOBTB1 has been linked to certain cancers, indicating its potential as a biomarker or therapeutic target.

RHOBTB1

PTPMT1 (Protein Tyrosine Phosphatase, Mitochondrial 1): PTPMT1 is a mitochondrial phosphatase involved in the regulation of lipid metabolism and mitochondrial function. It plays a key role in the biosynthesis of cardiolipin, a phospholipid essential for mitochondrial membrane integrity and energy production. Dysregulation of PTPMT1 has implications for metabolic diseases and is being investigated for its role in cancer metabolism, underscoring its importance for cellular energy homeostasis and disease.

PTPMT1

NEO1 (Neogenin 1): Neogenin 1 is a pivotal cell surface receptor involved in several cellular functions, including cell adhesion, migration, and axon guidance. It is part of the immunoglobulin superfamily and holds a key role in nervous system development and the regulation of apoptosis. NEO1 serves as a receptor for netrin-1 and other ligands that regulate axonal growth and neuronal migration, processes essential for brain development. Furthermore, it contributes to maintaining tissue homeostasis and vascular development. Mutations or dysregulation of NEO1 have been linked to various developmental disorders and diseases, including cancer progression and metastasis.

NEO1

RGS17 (Regulator Of G Protein Signaling 17): RGS17 is a gene that encodes a protein belonging to the regulator of G protein signaling (RGS) family. These proteins assist in controlling G protein-coupled receptor (GPCR) signalling by accelerating the conversion of GTP to GDP. RGS17 may affect multiple GPCR-regulated pathways, influencing various physiological processes.

RGS17

PSG9 (Pregnancy-Specific Glycoprotein 9): PSG9 is a gene that encodes a protein belonging to the pregnancy-specific glycoprotein family, which plays a role in immune regulation during pregnancy. These proteins may help support maternal tolerance of the fetus and contribute to fetal development. Although the exact function of PSG9 is still under investigation, it may affect reproductive health and pregnancy outcomes.

PSG9

PAPLN (Pappalysin 1): PAPLN is a gene linked to pregnancy-associated plasma protein-A (PAPP-A). PAPP-A plays a role in pregnancy-related processes and is crucial for regulating insulin-like growth factor (IGF) signaling.

PAPLN

PRDM5 (PR Domain Containing 5): PRDM5 is a transcription factor that plays a crucial role in regulating gene expression, cellular differentiation, and extracellular matrix organisation. It is essential for the development and maintenance of tissues such as bone, cartilage, and connective tissue. Mutations in PRDM5 are linked to brittle cornea syndrome and other connective tissue disorders, highlighting its significance in tissue integrity and health.

PRDM5

KCNJ11 (Potassium Inwardly Rectifying Channel Subfamily J Member 11): KCNJ11 is a gene that encodes a protein forming part of the ATP-sensitive potassium (KATP) channel in pancreatic beta cells. These channels are essential for regulating insulin secretion and maintaining glucose homeostasis. Variations in KCNJ11 are linked to an increased risk of type 2 diabetes.

KCNJ11

PAPPA (Pregnancy-Associated Plasma Protein A): PAPPA is a protease that regulates the availability of insulin-like growth factors (IGFs) by cleaving their binding proteins. It plays a crucial role in fetal development and is used as a biomarker in prenatal screening for aneuploidies. Abnormal levels of PAPPA are associated with adverse pregnancy outcomes, including preeclampsia and intrauterine growth restriction.

PAPPA

HNRNPA1P48 (Heterogeneous Nuclear Ribonucleoprotein A1 Pseudogene 48): HNRNPA1P48 is a pseudogene related to the HNRNPA1 gene, which encodes a protein involved in mRNA processing and transport. While HNRNPA1P48 may not produce a functional protein, it could have regulatory roles in gene expression, such as generating non-coding RNAs or acting as decoys for regulatory molecules. Its precise functions are not fully understood, but its connection to HNRNPA1 suggests a potential role in RNA metabolism and regulation.

HNRNPA1P48

VEGFC (Vascular Endothelial Growth Factor C): VEGFC is a protein that plays a crucial role in lymphangiogenesis, the formation of lymphatic vessels, and angiogenesis, the formation of blood vessels. As a member of the VEGF family, it contributes to processes such as embryonic development, tissue repair, and tumour progression. VEGFC stimulates the growth and proliferation of lymphatic endothelial cells, promoting the formation and remodelling of lymphatic vessels. It primarily functions by binding to and activating VEGFR-3 (vascular endothelial growth factor receptor 3).

VEGFC

PTPRC (Protein Tyrosine Phosphatase, Receptor Type C): PTPRC is a protein that serves as a key regulator of the immune system. Also known as CD45, it is a transmembrane protein tyrosine phosphatase essential for activating T and B lymphocytes. PTPRC plays a crucial role in modulating signal transduction pathways, and its dysregulation can contribute to immune system disorders.

PTPRC

MRPS18C (Mitochondrial Ribosomal Protein S18C): MRPS18C is a component of the mitochondrial ribosome, crucial for mitochondrial protein synthesis. It plays a vital role in producing proteins that form part of the mitochondrial respiratory chain. Dysfunction in MRPS18C can affect mitochondrial function and energy metabolism, potentially leading to mitochondrial disorders.

MRPS18C

CACNA1D (Calcium Voltage-Gated Channel Subunit Alpha1 D): CACNA1D is a gene that encodes a subunit of the L-type voltage-dependent calcium channel, which is essential for regulating calcium influx in various cell types, especially in muscle and nerve cells. Mutations in this gene have been linked to conditions such as autism spectrum disorders, epilepsy, and certain cardiac dysfunctions.

CACNA1D

PVR (Poliovirus Receptor): PVR is a transmembrane glycoprotein that acts as a receptor for poliovirus and related enteroviruses, enabling viral entry and infection. Beyond its role in viral recognition, PVR is vital for cell-to-cell adhesion, immune regulation, and tissue homeostasis. It supports the integrity of epithelial and endothelial barriers through its role in adherens and tight junctions. PVR’s interactions with ligands such as TIGIT and DNAM-1 help regulate immune cell activation, affecting both innate and adaptive immune responses. Dysregulation of PVR expression or function can significantly impact immune function and tissue integrity.

MPO (Myeloperoxidase): MPO is an enzyme primarily found in neutrophils and plays a crucial role in the body’s defence system. It produces hypochlorous acid and other reactive molecules from hydrogen peroxide to fight bacteria and pathogens. While vital for immune defence, MPO activity can also cause tissue damage during inflammation and has been associated with diseases, including cardiovascular conditions, through its involvement in oxidative stress.

TMPRSS4 (Transmembrane Protease, Serine 4): TMPRSS4 is a member of the transmembrane serine protease family, found on the cell surface and involved in activating proteins by cleaving peptide bonds. TMPRSS4 plays crucial roles in physiological and pathological processes, including cell migration, invasion, and the regulation of epithelial-mesenchymal transition (EMT), which is vital for development, wound healing, and cancer metastasis. Its overexpression has been associated with the progression of various cancers, making TMPRSS4 a potential biomarker for cancer diagnosis and prognosis.

TMPRSS4

SARDH (Sarcosine Dehydrogenase): SARDH is an enzyme involved in the metabolism of sarcosine, an intermediate in the conversion of choline to glycine. It plays a key role in one-carbon metabolism, which is important for processes such as DNA methylation. Dysfunctions in SARDH can affect metabolic pathways and have been associated with certain metabolic disorders.

SARDH

RWDD3 (RWD Domain Containing 3): RWDD3 is a protein whose function is not yet fully understood. It is being studied for its possible roles in cellular processes and its significance to human health and disease.

RWDD3

THNSL2 (Threonine Synthase-Like 2): THNSL2 is an enzyme that may play a role in amino acid metabolism, specifically in threonine synthesis. Its exact function and importance in human metabolism and disease remain unclear.

THNSL2

NFE2 (Nuclear Factor, Erythroid 2): NFE2 is a transcription factor that regulates genes involved in erythropoiesis, the process of producing red blood cells. It plays a crucial role in the development and maturation of erythroid cells. Alterations or mutations in NFE2 can affect red blood cell production and may lead to blood disorders.

NFE2

OXTR (Oxytocin Receptor): OXTR is a gene that encodes the receptor for oxytocin, a hormone involved in social bonding, sexual reproduction, childbirth, and maternal behaviours. It plays a key role in regulating social interactions and trust, and dysregulation may contribute to conditions such as autism and social anxiety disorders.

OXTR

OR10J5 (Olfactory Receptor 10J5): OR10J5 is a gene that encodes a protein belonging to the olfactory receptor family, which is essential for the sense of smell. This receptor detects specific odor molecules and contributes to the perception of a wide range of scents. Studying OR10J5 helps improve our understanding of olfaction and may inform the development of sensory-related technologies and fragrance design.

OR10J5

TNFRSF11B (Tumor Necrosis Factor Receptor Superfamily Member 11B): TNFRSF11B is a protein, also known as osteoprotegerin, that plays a key role in bone metabolism. It acts as a decoy receptor for RANKL, helping to inhibit osteoclast formation and prevent bone resorption. TNFRSF11B is essential for maintaining bone density and strength, and changes in its function are associated with osteoporosis and other bone disorders.

TNFRSF11B

TP63 (Tumor Protein P63): TP63 is a member of the p53 family of transcription factors that plays a crucial role in the development and maintenance of epithelial tissues, as well as in cell cycle regulation and programmed cell death. It is involved in embryonic development, stem cell maintenance, and tumour formation. Mutations in TP63 can lead to various developmental disorders and have been associated with certain cancers. Research continues to investigate its dual functions in normal cellular processes and disease.

TP63

TMEM245 (Transmembrane Protein 245): TMEM245 is a protein found in the cell membrane, although its exact functions are not yet fully understood. It may be involved in processes related to membrane dynamics or intracellular transport. Further research is necessary to elucidate its role in cellular physiology and its potential associations with disease.

TMEM245

NDRG2 (N-Myc Downstream Regulated Gene 2): NDRG2 is a gene that regulates cell growth and differentiation. It acts as a tumour suppressor and plays a crucial role in stress responses and the inhibition of cell proliferation. NDRG2 is especially vital for brain and nervous system development, and its dysregulation has been associated with various types of cancer.

NDRG2

RTN4 (Reticulon 4): RTN4 is a protein, also known as Nogo, which plays a crucial role in regulating nerve fibre growth in the central nervous system. It holds significant importance in the context of spinal cord injury and neurodegenerative diseases, as it can inhibit axon regeneration. RTN4 has been a focal point of research dedicated to promoting neural repair and regeneration.

RTN4

TMEM72 (Transmembrane Protein 72): TMEM72 is a transmembrane protein whose functions have not yet been fully defined. Similar to other transmembrane proteins, TMEM72 is thought to be involved in cellular signalling, transport, and communication. Its precise role in cellular processes and possible links to human diseases are currently being explored.

NLGN1

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