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GetTested’s DNA Skin & Beauty test analyses genes that influence your skin’s health and provides you with personalized recommendations based on your genetics. The test covers a range of factors from skin aging to specific skin conditions like age spots and sensitivity, to your predisposition to various skin problems such as acne and rosacea.

<p>GetTested’s DNA Skin & Beauty test analyses genes that influence your skin’s health and provides you with personalized recommendations based on your genetics. The test covers a range of factors from skin aging to specific skin conditions like age spots and sensitivity, to your predisposition to various skin problems such as acne and rosacea.</p>

DNA Skin & Beauty Test

ABCG2 (ATP-Binding Cassette Subfamily G Member 2) is a protein that acts as a cellular transporter, moving various molecules — including drugs, toxins, and metabolites — out of cells. As part of the ATP-binding cassette (ABC) transporter family, it plays a crucial role in shielding tissues from harmful substances and contributes to drug resistance.

ABCG2

DLEU7 (Deleted in Lymphocytic Leukemia 7) is a gene identified for its potential role in cancer biology, particularly in chronic lymphocytic leukemia (CLL). It is believed to influence key processes such as cell cycle control and programmed cell death (apoptosis). Loss or malfunction of DLEU7 may contribute to cancer development and progression, making it a focus of research for new diagnostic markers and targeted therapies.

DLEU7

ACP1 (Acid Phosphatase 1, Soluble) is a gene that encodes an enzyme involved in multiple cellular processes, including signal transduction and energy metabolism. It exists in several isoforms with distinct roles, influencing immune function and cellular signalling. Variations in ACP1 have been associated with increased susceptibility to certain autoimmune disorders and metabolic conditions.

ACP1

ADGRL3 (Adhesion G Protein-Coupled Receptor L3) is a gene that codes for a protein in the adhesion G protein-coupled receptor family, which aids in cell-to-cell communication and supports the development and functioning of the nervous system. It plays a crucial role in brain formation, neuronal signaling, and maintaining neural connectivity. Variations in ADGRL3 have been linked to neurological conditions, including attention deficit hyperactivity disorder (ADHD).

ADGRL3

CYP4F2 (Cytochrome P450 Family 4 Subfamily F Member 2) is an enzyme involved in the metabolism of fatty acids, vitamin K, eicosanoids, and various drugs and toxins. It plays a role in regulating blood clotting and inflammation. Genetic variations in CYP4F2 can influence how the body metabolises certain medications, especially anticoagulants.

CYP4F2

CYP4V2 (Cytochrome P450 Family 4 Subfamily V Member 2) is an enzyme involved in the metabolism of fatty acids and lipids, including the production of fatty acid epoxides that play a role in regulating blood pressure and controlling inflammation. Variants of CYP4V2 are associated with Bietti’s crystalline dystrophy, a rare retinal disorder that can lead to progressive vision loss, highlighting its significance in both lipid metabolism and eye health.

CYP4V2

DAAM2 (Dishevelled Associated Activator of Morphogenesis 2) is a protein that regulates cytoskeletal organization and cell shape. It plays an important role in processes such as cell movement, tissue development, and morphogenesis.

DAAM2

CXCL5 (C-X-C motif chemokine ligand 5) is a signaling protein that helps recruit neutrophils — a type of white blood cell — to areas of inflammation or injury. It plays a key role in the body’s innate immune defence and contributes to inflammatory processes in conditions ranging from infections to chronic inflammatory diseases. CXCL5 is also linked to cancer progression, where it can promote tumour growth and metastasis by attracting and activating neutrophils within the tumour environment.

CXCL5

DHFR (Dihydrofolate Reductase) is an enzyme that holds a crucial role in DNA synthesis and repair. It catalyzes the conversion of dihydrofolate into tetrahydrofolate, an essential cofactor for the production of purines, thymidylate, and certain amino acids. This process is vital for cell growth and division, making DHFR a key target in cancer treatment, where inhibitors such as methotrexate block its activity to stop rapidly dividing cells.

DHFR

GRIN3A (Glutamate Ionotropic Receptor NMDA Type Subunit 3A) is a gene that encodes a subunit of the NMDA receptor, which is part of the glutamate receptor family. NMDA receptors are crucial for synaptic plasticity, learning, and memory, playing a key role in neuronal communication. Variations in GRIN3A can affect brain function and are significant in neurological research.

GRIN3A

SIVA1 (SIVA1 Apoptosis-Inducing Factor) is a protein involved in regulating programmed cell death, or apoptosis. It plays a role in controlling cell survival and death pathways, helping maintain the balance between healthy cell function and elimination of damaged cells. Research on SIVA1 focuses on understanding its impact on cellular fate and its potential links to various diseases.

SIVA1

FADS2 (Fatty Acid Desaturase 2) is an enzyme that plays a crucial role in the production of polyunsaturated fatty acids — essential components of cell membranes and precursors to important signalling molecules. Variations in FADS2 activity can affect how the body processes essential fatty acids and are linked to metabolic and inflammatory health outcomes.

FADS2

WNK1 (WNK Lysine Deficient Protein Kinase 1) is a serine/threonine kinase that plays a crucial role in regulating electrolyte balance and blood pressure. It affects sodium and potassium transport in the kidneys, aiding in the maintenance of fluid balance and vascular function. Variants in WNK1 can disrupt this regulation, contributing to hereditary hypertension and electrolyte disorders.

WNK1

B4GALT6 (Beta-1,4-galactosyltransferase 6) is an enzyme that plays a crucial role in the biosynthesis of glycosaminoglycans (GAGs) — complex carbohydrates found in proteoglycans. Primarily located in the Golgi apparatus, it catalyses the transfer of galactose from UDP-galactose to core proteins, initiating the formation of GAG chains such as chondroitin sulphate.

B4GALT6

ENOX1 (Ecto-NOX Disulfide-Thiol Exchanger 1) is a protein that facilitates electron transfer across the cell membrane, contributing to cellular redox balance. It is associated with the regulation of cell growth and the ageing process, although its precise role in human physiology and disease is not yet fully understood.

ENOX1

ATP5MK (ATP Synthase Membrane Subunit K) is a part of the mitochondrial ATP synthase complex, crucial for generating ATP during cellular respiration. It plays a vital role in cellular energy metabolism, and any dysfunction can disturb the energy balance, potentially causing metabolic disorders.

ATP5MK

IGFBP3 (Insulin-Like Growth Factor Binding Protein 3) is a protein that binds to insulin-like growth factors (IGFs), regulating their availability and activity within the body. This control affects cell growth, development, and metabolism. IGFBP3 is extensively researched in cancer studies, as it can either inhibit or enhance IGF effects depending on the cellular environment, making it a crucial element in tumour growth and potential treatment strategies.

IGFBP3

CHRNB3 (Cholinergic Receptor Nicotinic Beta 3 Subunit) is a protein that constitutes part of the nicotinic acetylcholine receptor, which is crucial in cholinergic neurotransmission. Variations in the CHRNB3 gene have been associated with nicotine addiction and related behavioural traits, indicating its role in the brain’s addiction pathways and regulation of neural circuits.

CHRNB3

SLC7A1 (Solute Carrier Family 7 Member 1) is a gene that encodes a transporter protein responsible for the uptake of amino acids, especially arginine and lysine. These amino acids are vital for cell growth, nitric oxide production, and various metabolic processes. SLC7A1 also plays a role in immune regulation and has been linked to certain cancers, making it an important subject in biomedical research.

SLC7A1

ATP5PD (ATP Synthase Peripheral Stalk Subunit DAPIT) is a protein subunit of mitochondrial ATP synthase, an enzyme complex essential for cellular energy production. It contributes to the synthesis of ATP — the main energy currency of cells — and supports mitochondrial integrity, playing a critical role in sustaining overall cellular metabolism.

ATP5PD

EPAS1 (Endothelial PAS Domain Protein 1) is a transcription factor, also known as HIF-2α, that helps the body respond to low oxygen (hypoxia) in tissues. It regulates genes involved in red blood cell production, iron metabolism, and blood vessel formation. EPAS1 is linked to high-altitude adaptation and plays a role in certain diseases, including some cancers.

EPAS1

FCRL3 (Fc Receptor-Like 3) is a protein predominantly expressed in B cells and belongs to the Fc receptor-like (FCRL) family. It plays a role in regulating B cell receptor signalling and antibody production, affecting immune system function and potentially contributing to the development of autoimmune diseases.

FCRL3

CHODL (Chondrolectin) is a gene that encodes a protein potentially involved in cell adhesion and chondrocyte differentiation. While its precise function is not yet fully understood, evidence suggests it may play a role in cartilage formation and musculoskeletal development.

CHODL

BLOC1S2 (Biogenesis of Lysosomal Organelles Complex-1, Subunit 2) is a protein component of a complex that supports the formation of lysosome-related organelles, including melanosomes and platelet dense granules. Proper function of BLOC1S2 is essential for pigmentation processes and platelet function, while defects can lead to disorders affecting skin colour and blood clotting.

BLOC1S2

VWC2L (von Willebrand Factor C Domain Containing Protein 2 Like): The von Willebrand factor C domain-containing protein 2-like (VWC2L) is a lesser-known protein characterised by the presence of a von Willebrand factor C domain — a structural feature commonly linked to extracellular matrix interactions and cell adhesion. It is believed to contribute to tissue development and structural integrity, although its precise role in human health and disease is not yet fully understood.

VWC2L

EPDR1 (Epidermal growth factor receptor pathway substrate 15-related protein 1) is a protein involved in cellular signalling, similar to MMP15’s role in extracellular matrix dynamics. As part of the epidermal growth factor receptor (EGFR) pathway substrate family, EPDR1 participates in regulating key processes like cell proliferation, survival, and differentiation. It interacts with important signalling molecules to modulate growth factor signalling cascades, helping cells respond to external signals such as growth factors and cytokines. Through these actions, EPDR1 influences cell fate decisions and maintains tissue homeostasis.

EPDR1

ACTN3 is a gene that encodes the protein Alpha-actinin-3, primarily located in fast-twitch muscle fibers. These fibers are crucial for generating quick and powerful muscle contractions, which are vital for explosive athletic performance. Variations in the ACTN3 gene, notably the R577X polymorphism, are linked to differences in sprinting ability and endurance, making this gene significant in sports genetics.

ACTN3

ZBTB49 (Zinc Finger and BTB Domain Containing 49) is a transcription factor that regulates gene expression through DNA binding and chromatin remodeling. As part of the ZBTB family, it plays a role in essential cellular processes such as proliferation, differentiation, and development. Although the precise functions of ZBTB49 are not yet fully understood, its involvement in transcriptional regulation indicates it may affect cell fate decisions and holds significant implications for cancer and developmental disorders.

ZBTB49

BHMT2 (Betaine-Homocysteine S-Methyltransferase 2) is a gene involved in homocysteine metabolism, functioning similarly to its counterpart, BHMT. It assists in converting homocysteine to methionine, a process crucial for cardiovascular and neurological health. Although it is less studied than BHMT, BHMT2 affects homocysteine levels in the body, which can influence heart function and neurological conditions. Understanding the role of BHMT2 can provide insights into its impact on metabolic pathways and disease risk.

BHMT2

BDNF (Brain-Derived Neurotrophic Factor) is a gene that encodes a protein crucial for the survival, growth, and maintenance of neurons in the brain. BDNF plays an essential role in synaptic plasticity, learning, and memory. Variations in BDNF levels have been linked to various neurological and psychiatric disorders.

BDNF

CSK (C-Src Tyrosine Kinase) is a vital regulatory enzyme that controls the activity of Src family tyrosine kinases by phosphorylating and inhibiting them. These kinases play crucial roles in cell growth, differentiation, and survival signalling pathways. Dysregulation of CSK can result in abnormal cell signalling, contributing to cancer and other diseases. Studying CSK’s regulatory functions helps us understand cell signalling control and offers potential targets for therapy in diseases involving tyrosine kinase imbalances.

XDH, or Xanthine dehydrogenase, is an enzyme that plays a vital role in purine metabolism, which involves the breakdown and recycling of purine nucleotides such as adenine and guanine. XDH catalyses the conversion of hypoxanthine to xanthine and subsequently xanthine to uric acid, the final product of purine degradation in humans. This process is crucial for eliminating excess purines from the body, aiding in the regulation of levels derived from both diet and cellular turnover.

SHLD1 (Shieldin Complex Subunit 1) is a protein that constitutes the shieldin complex, which plays a crucial role in DNA repair. It participates in repairing double-strand breaks through non-homologous end joining, a vital mechanism for maintaining genomic stability and preventing mutations.

SHLD1

BCO1 (Beta-Carotene Oxygenase 1) is an enzyme that plays a crucial role in converting beta-carotene into retinal, the active form of vitamin A. Vitamin A is vital for vision, immune health, and cell communication. The activity of BCO1 affects how efficiently dietary beta-carotene is converted into vitamin A, influencing overall vitamin A levels and related health outcomes. Variations in the BCO1 gene can affect an individual’s capacity to metabolise beta-carotene and their risk of vitamin A deficiency.

BCO1

GATA3 (GATA Binding Protein 3) is a transcription factor that regulates the development and differentiation of multiple cell types, including T cells and mammary gland cells. It is essential for proper immune function and breast tissue formation. Mutations in GATA3 can lead to immunodeficiency and breast cancer.

GATA3

FSHR, or Follicle-Stimulating Hormone Receptor, is a receptor protein primarily located on ovarian granulosa cells in females and Sertoli cells in males. It plays a crucial role in reproductive function by mediating the actions of follicle-stimulating hormone (FSH), which is secreted by the anterior pituitary gland. FSHR is vital for processes such as folliculogenesis—the growth and maturation of ovarian follicles in females—by activating signaling pathways that encourage cell growth and development.

FSHR

B3GALNT1 (Beta-1,3-N-Acetylgalactosaminyltransferase 1) is an enzyme that plays a crucial role in glycosylation, a process vital for proper protein function. It aids in the synthesis of specific glycan structures important for cell-to-cell adhesion and signalling. Mutations in B3GALNT1 can lead to muscular dystrophy-dystroglycanopathy, a group of disorders affecting muscle function.

B3GALNT1

CHDH (Choline Dehydrogenase) is a crucial enzyme involved in choline metabolism, converting choline into betaine. This conversion aids the production of acetylcholine, an essential neurotransmitter, and helps regulate homocysteine levels, which is vital for cardiovascular health. CHDH activity impacts choline availability, influencing liver function, brain development, and nervous system health. Studying CHDH can provide valuable insights into nutritional requirements and interventions for metabolic disorders.

CHDH

GBP3 (Guanylate Binding Protein 3) is a member of the guanylate-binding protein family that plays a crucial role in the immune system. It is particularly important for defending against intracellular pathogens, including viruses and bacteria. GBP3 also helps regulate inflammatory responses during infections.

GBP3

FUCA1 (Alpha-L-Fucosidase 1): FUCA1 (Alpha-L-Fucosidase 1) is a gene that encodes an enzyme responsible for breaking down fucose, a sugar component found in complex carbohydrates. This enzyme plays a key role in metabolic processes, and deficiencies in FUCA1 can cause fucosidosis, a rare lysosomal storage disorder. Studying FUCA1 helps improve understanding of metabolic pathways and related disorders.

FUCA1

ETS1 (ETS Proto-Oncogene 1, Transcription Factor): ETS1 is a key member of the ETS family of transcription factors that regulate gene expression. It plays important roles in controlling immune responses, cell growth, and development. ETS1 is involved in processes such as angiogenesis, lymphocyte formation, and tumour development, and has been linked to several cancers and autoimmune disorders.

ETS1

SHMT1 (Serine Hydroxymethyltransferase 1): SHMT1 is an enzyme that catalyses the conversion of serine and tetrahydrofolate into glycine and methylenetetrahydrofolate. This process is essential for nucleotide synthesis and methylation reactions, which support DNA replication and repair. SHMT1 plays a key role in cell growth and genetic stability, and its activity in folate metabolism is linked to cancer risk and neurological disorders.

SHMT1

B3GNTL1 (Beta-1,3-N-Acetylglucosaminyltransferase Like 1): B3GNTL1 is an enzyme involved in the biosynthesis of complex carbohydrates, specifically contributing to the formation of glycosaminoglycans, key components of the extracellular matrix. These enzymes play important roles in cell communication, signalling, and maintaining structural integrity. Although the full biological functions of B3GNTL1 are still being studied, disruptions in glycosaminoglycan synthesis can affect development and are linked to conditions like cancer and congenital disorders.

B3GNTL1

ANGPTL4 (Angiopoietin-Like 4): ANGPTL4 is a multifunctional protein that plays key roles in regulating lipid metabolism, blood vessel formation (angiogenesis), and inflammation. It influences these processes by inhibiting lipoprotein lipase (LPL) activity, which raises plasma triglyceride levels, and by limiting endothelial cell migration and tube formation, affecting vascular growth and remodeling. Additionally, ANGPTL4 helps regulate inflammatory responses and tissue repair. Imbalances in ANGPTL4 function have been linked to metabolic conditions such as obesity, dyslipidemia, and insulin resistance.

ANGPTL4

CHMP3 (Charged Multivesicular Body Protein 3): CHMP3 is a crucial component of the ESCRT-III complex (Endosomal Sorting Complex Required for Transport III). It plays a vital role in the formation of multivesicular bodies and is involved in sorting ubiquitinated membrane proteins for degradation in lysosomes, thereby helping regulate cellular protein turnover and membrane trafficking.

CHMP3

ESR2 (Estrogen Receptor 2): ESR2 is a gene that encodes one of the two primary oestrogen receptors in the body. It mediates the effects of oestrogen, a key hormone involved in reproductive functions as well as bone, cardiovascular, and neural health. ESR2 plays important roles in various physiological processes and is a target in hormone replacement therapies and certain cancer treatments.

ESR2

BACH2 (BTB and CNC Homology 1, Basic Leucine Zipper Transcription Factor 2): BACH2 is a gene that encodes a transcription factor involved in regulating the immune system. It plays a key role in maintaining immune balance by controlling the development and function of important immune cells, such as B cells and T cells. Dysregulation of BACH2 has been linked to autoimmune diseases and increased vulnerability to infections.

BACH2

ALOX5AP (Arachidonate 5-Lipoxygenase-Activating Protein): ALOX5AP is a gene that encodes a protein involved in activating the enzyme arachidonate 5-lipoxygenase (ALOX5). This enzyme plays a key role in metabolising arachidonic acid and producing leukotrienes, which are important inflammatory mediators. Variations in ALOX5AP have been linked to cardiovascular diseases and asthma.

ALOX5AP

ARL14EP (ADP-ribosylation factor-like protein 14E): ARL14EP is a protein that plays a crucial role in regulating intracellular vesicle trafficking and membrane dynamics. As a member of the ARL protein family, it helps control the movement of vesicles within cells, affecting processes such as protein secretion, endocytosis, and the organisation of organelles. ARL14EP is also involved in cell signalling and cytoskeletal regulation, making it essential for overall cellular function. Changes in ARL14EP activity or expression have been associated with various diseases, including neurodegenerative disorders, cancer, and metabolic conditions.

ARL14EP

BARHL2 (BarH-Like Homeobox 2): BARHL2 is a homeobox transcription factor that plays a crucial role in neural development. It is involved in the differentiation and specification of specific neuronal cell types during embryogenesis, contributing to the formation of a functional nervous system.

BARHL2

CYP4F11 (Cytochrome P450 Family 4 Subfamily F Member 11): CYP4F11 is an enzyme belonging to the cytochrome P450 family. It plays a crucial role in the oxidation of fatty acids and drug metabolism. The function of CYP4F11 in lipid processing and drug detoxification is important for understanding individual differences in drug response and the risk of diseases related to lipid metabolism.

CYP4F11

BCL11A (B-Cell CLL/Lymphoma 11A): BCL11A is a transcription factor crucial for the development and function of blood cells. It plays a significant role in regulating fetal hemoglobin levels and is a primary focus of research in sickle cell disease and beta-thalassemia. BCL11A is also implicated in the progression of certain blood cancers.

BCL11A

GIPR (Glucose-Dependent Insulinotropic Polypeptide Receptor): GIPR is a gene that encodes the receptor for the hormone GIP, which aids in stimulating insulin release after meals. This receptor plays a crucial role in regulating glucose metabolism and insulin secretion, supporting the body’s response to food consumption.

GIPR

GC (Group-Specific Component, also known as Vitamin D Binding Protein): GC, also known as Vitamin D Binding Protein, is a protein that binds and transports vitamin D and its metabolites in the bloodstream. It plays a key role in regulating calcium and phosphate balance, as well as modulating immune and inflammatory responses. Variations in GC can influence vitamin D levels and metabolism, affecting bone health and potentially altering the risk of autoimmune diseases.

RNF220 (Ring Finger Protein 220): RNF220 is a protein that belongs to the ring finger family, known for its ring finger domain involved in protein interactions and ubiquitination. It functions as an E3 ubiquitin ligase, playing a key role in the ubiquitin-proteasome system responsible for protein degradation and maintaining cellular balance. RNF220 helps regulate vital cellular activities such as signal transduction, gene expression, and the cell cycle. Disruptions in RNF220 function have been associated with diseases including cancer and neurodegenerative disorders.

RNF220

TCF19 (Transcription Factor 19): TCF19 is a gene that encodes a transcription factor involved in regulating the cell cycle. It helps control cell proliferation and may participate in the cellular response to DNA damage. Alterations in TCF19 function have been linked to cancer development, underscoring its significance in cell biology and oncology.

TCF19

GCNT1 (Glucosaminyl (N-Acetyl) Transferase 1): GCNT1 is a gene that encodes an enzyme involved in the biosynthesis of mucins, which are vital components of mucus. It plays a role in modifying glycoproteins, affecting cell signalling and immune function. Changes in GCNT1 activity have been associated with conditions such as cystic fibrosis and certain cancers.

GCNT1

SH2B1 (SH2B Adaptor Protein 1): SH2B1 is a gene that encodes an adaptor protein involved in multiple intracellular signalling pathways, particularly those linked to insulin and leptin. It plays a key role in regulating energy balance, body weight, and glucose metabolism. Variations in SH2B1 have been associated with obesity and insulin resistance.

SH2B1

FCRL6 (Fc Receptor-Like 6): FCRL6 is a gene that encodes a protein expressed on specific T cells and natural killer (NK) cells, where it helps regulate immune responses. It may influence how these cells respond in the context of infection, autoimmune conditions, and cancer. Research on FCRL6 is exploring its potential as a target for therapies aimed at improving immune regulation.

FCRL6

APOC4 (Apolipoprotein C-IV): APOC4 is a protein that belongs to the apolipoprotein family and plays a crucial role in lipid metabolism and transport. It helps regulate triglyceride-rich lipoprotein particles and affects how lipoproteins interact with their receptors and lipid transfer proteins. APOC4 is present in several plasma lipoprotein fractions, including very low-density lipoproteins (VLDL) and high-density lipoproteins (HDL). Its role in lipid metabolism connects it to cardiovascular health, with dysregulation or genetic variations potentially impacting lipid levels and contributing to atherosclerosis, coronary artery disease, and other lipid disorders.

APOC4

BRK1 (Breakpoint cluster region kinase 1): BRK1 is a gene involved in signaling pathways that regulate cell proliferation, differentiation, and migration. As part of the breakpoint cluster region kinase family, BRK1 influences processes such as cell cycle progression, cytoskeletal organisation, and cell adhesion. It is also linked to immune regulation and oncogenic signalling, with dysregulation potentially contributing to cancer and inflammatory diseases.

BRK1

FMO4 (Flavin Containing Monooxygenase 4): FMO4 is an enzyme belonging to the flavin-containing monooxygenase family. It plays a key role in the detoxification process by catalysing the oxidation of various compounds, including drugs, xenobiotics, and endogenous molecules. Primarily expressed in the liver, FMO4 helps regulate the metabolism and elimination of substances, which can impact drug effectiveness and toxicity. Ongoing research explores its significance in metabolic pathways and its potential effects on pharmacology and toxicology.

FMO4

LAX1 (Lymphocyte Transmembrane Adaptor 1): LAX1 is a gene that encodes a transmembrane protein mainly found in lymphocytes. It plays a role in immune cell signaling and activation, contributing to the regulation of lymphocyte development and function.

LAX1

FAR1 (Fatty Acyl-CoA Reductase 1): FAR1 is a gene that encodes an enzyme responsible for converting fatty acyl-CoA into fatty alcohols, a crucial step in the production of wax esters and other complex lipids. These lipids contribute to the structure of cell membranes and help protect cells from environmental stress. FAR1’s role in lipid metabolism is associated with skin barrier function, lipid storage disorders, and potential uses in biofuel and industrial manufacturing.

FAR1

EPB41L4A (Erythrocyte Membrane Protein Band 4.1 Like 4A): EPB41L4A is a gene that encodes a protein crucial for cytoskeletal organization and membrane stability. This protein supports the maintenance of cellular structural integrity, especially in red blood cells. Mutations in EPB41L4A can alter the shape of red blood cells, leading to associated disorders.

EPB41L4A

MYRIP (Myosin VIIA and Rab Interacting Protein): MYRIP is a gene that encodes a protein involved in the transport and positioning of melanosomes in pigment cells and synaptic vesicles in neurons. It connects actin-based myosin VIIA to Rab proteins, supporting vesicle trafficking essential for pigmentation and synaptic communication.

MYRIP

NCK2 (NCK Adaptor Protein 2): NCK2 is a protein that links receptor tyrosine kinases to signaling pathways regulating cell growth, movement, and cytoskeletal organization. It participates in multiple signaling networks that enable cells to respond to external signals. Dysregulation of NCK2 has been associated with cancer progression and metastasis, highlighting its role in cell signaling and tumour development.

NCK2

NSMAF (Neutral Sphingomyelinase Activation-Associated Factor): NSMAF is a gene that encodes a protein involved in regulating sphingomyelinase, an enzyme essential for sphingolipid metabolism. It contributes to cell signalling, particularly in stress responses and the initiation of apoptosis. NSMAF is of interest for its potential roles in inflammation, neurodegeneration, and other disease-related processes.

NSMAF

GLRB (Glycine Receptor Beta Subunit): GLRB is a gene that encodes a component of the glycine receptor, a chloride channel essential for inhibitory neurotransmission in the spinal cord and brainstem. This receptor is important for regulating motor and sensory functions, and mutations in GLRB can cause neurological conditions such as hyperekplexia, marked by an exaggerated startle reflex.

GLRB

MST1 (Macrophage Stimulating 1): MST1 is a gene that encodes a protein involved in activating macrophages, which are crucial cells of the immune system. It plays a role in inflammation and immune defense and has been associated with the development of autoimmune diseases and certain types of cancer.

MST1

MAN1A2 (Mannosidase Alpha Class 1A Member 2): MAN1A2 is an enzyme involved in modifying N-linked oligosaccharides during glycoprotein biosynthesis. It plays a role in protein processing and quality control within the endoplasmic reticulum, ensuring correct protein folding and maintaining cellular homeostasis.

MAN1A2

AGA (Aspartylglucosaminidase): AGA is an enzyme crucial for breaking down glycoproteins inside cells. A deficiency in AGA leads to aspartylglucosaminuria, a lysosomal storage disorder characterized by the accumulation of glycoprotein-derived oligosaccharides, resulting in developmental delays and other symptoms.

BIN1 (Bridging Integrator 1): BIN1 is a protein that plays a crucial role in regulating the dynamics of cellular membranes. It is involved in key processes such as endocytosis and the formation of membrane curvature. BIN1 acts as a bridging factor, facilitating the formation of membrane tubules essential for various cellular functions.

BIN1

SIK2 (Salt-Inducible Kinase 2): SIK2 is a kinase belonging to the AMPK family that plays a role in regulating the body's energy balance. It affects lipid and glucose metabolism and is associated with conditions such as obesity, diabetes, and metabolic changes related to cancer.

SIK2

FGF5 (Fibroblast Growth Factor 5): FGF5 is a gene that encodes a protein belonging to the fibroblast growth factor family, which plays a role in cell growth, differentiation, and signaling. FGF5 regulates hair growth cycles and affects hair length in various species. It also participates in tissue development and repair, including functions in neural development. Abnormal FGF5 activity has been associated with certain diseases, including cancer.

FGF5

ISCA2 (Iron-Sulfur Cluster Assembly 2): ISCA2 is a protein involved in the assembly of iron-sulfur clusters, which are crucial for proper mitochondrial function and cellular energy production. ISCA2 plays a vital role in sustaining energy metabolism within cells, and mutations in this gene can cause mitochondrial disorders with varied clinical manifestations.

ISCA2

ZCCHC7 (Zinc Finger CCHC-Type Containing 7): ZCCHC7 is a member of the zinc finger protein family, recognised for their roles in DNA binding and gene regulation. Although its exact function is not fully understood, ZCCHC7 is believed to participate in processes such as transcriptional regulation, RNA processing, and DNA repair, influencing various cellular activities and potentially contributing to disease mechanisms.

ZCCHC7

SORCS1 (Sortilin-Related VPS10 Domain Containing Receptor 1): SORCS1 is a gene that encodes a receptor involved in protein trafficking and sorting within cells. This receptor plays a crucial role in regulating receptor signalling and is associated with neural development and synaptic function.

SORCS1

FBXO8 (F-Box Protein 8): FBXO8 is a member of the F-box protein family, which plays a key role in the ubiquitin-proteasome system — the body’s mechanism for regulating protein degradation and turnover. FBXO8 functions by aiding in the identification of specific proteins for breakdown, thus influencing crucial cellular processes such as the cell cycle, signal transduction, and immune response. Although its precise targets and functions are still under investigation, FBXO8’s role in protein degradation underscores its importance in maintaining cellular homeostasis and its potential link to diseases involving protein misfolding or aggregation, including neurodegenerative disorders.

FBXO8

ISL1 (ISL LIM Homeobox 1): ISL1 is a transcription factor that regulates the development and differentiation of key tissues, including the heart, motor neurons, and sensory neurons. It plays an essential role in guiding these cells during embryonic growth and maintaining their function in adults. Mutations in ISL1 are linked to congenital heart defects and other developmental disorders.

ISL1

CCDC167 (Coiled-Coil Domain Containing 167): CCDC167 is a gene that encodes a protein featuring a coiled-coil domain, a structural motif known for facilitating protein-protein interactions. While its precise biological roles are still being investigated, CCDC167 may participate in important cellular processes yet to be fully defined.

CCDC167

IFIH1 (Interferon Induced With Helicase C Domain 1): IFIH1, also known as MDA5, is a gene that encodes a protein functioning as an intracellular sensor for viral RNA. It plays a crucial role in innate immunity by detecting viral replication and initiating immune responses. Variations in IFIH1 have been associated with autoimmune disorders such as type I diabetes and systemic lupus erythematosus.

IFIH1

ZFP57 (ZFP57 Zinc Finger Protein): ZFP57 is a KRAB-zinc finger protein that plays a crucial role in regulating genomic imprinting and DNA methylation. It is vital for maintaining the epigenetic stability of imprinted genes during early embryonic development. Mutations in ZFP57 are linked to transient neonatal diabetes and other imprinting disorders, underscoring its significance in epigenetic regulation and developmental processes.

ZFP57

CCBE1 (Collagen and Calcium Binding EGF Domains 1): CCBE1 is a gene crucial for lymphangiogenesis, the development of lymphatic vessels. It regulates vascular endothelial growth factor C (VEGF-C), an important factor in the formation of the lymphatic system. Mutations in CCBE1 can lead to Hennekam syndrome, a rare condition characterised by lymphedema, lymphangiectasia, and intellectual disability.

CCBE1

IRX2 (Iroquois Homeobox 2): IRX2 is a transcription factor belonging to the Iroquois homeobox gene family. It plays a crucial role in embryonic development by regulating the patterning and formation of tissues such as the heart and nervous system. Dysregulation of IRX2 has been associated with developmental disorders and may also contribute to cancer.

IRX2

NBPF3 (Neuroblastoma Breakpoint Family, Member 3): NBPF3 is a gene that belongs to the neuroblastoma breakpoint family, with functions that are not yet fully understood. It may play a role in neurological development or function and could be linked to the onset of neuroblastoma, a type of childhood cancer.

NBPF3

KNDC1 (Kinase Non-Catalytic C-Lobe Domain Containing 1): KNDC1 is a gene that encodes a protein containing kinase-like domains but lacks enzymatic kinase activity. Although its exact functions are not yet fully understood, KNDC1 is believed to play a role in various cellular processes. Ongoing research aims to clarify its contributions to cell biology and function.

KNDC1

ENG (Endoglin): ENG is a glycoprotein that acts as part of the TGF-beta receptor complex and plays a crucial role in angiogenesis, vascular development, and remodeling. Mutations in this gene are associated with hereditary hemorrhagic telangiectasia, a disorder marked by abnormal blood vessel formation.

SIRT1 (Sirtuin 1): SIRT1 is a protein belonging to the sirtuin family, which regulates crucial cellular processes through protein deacetylation. SIRT1 plays a significant role in promoting longevity and controlling ageing. It affects gene expression, supports DNA repair, and assists cells in responding to stress, making it an essential factor in ageing and age-related health issues.

SIRT1

AEBP2 (Adipocyte Enhancer Binding Protein 2): AEBP2 is a DNA-binding transcription factor that plays a role in regulating gene expression and adipocyte differentiation. It is also a component of the Polycomb Repressive Complex 2 (PRC2), which contributes to the epigenetic silencing of genes during development and cell differentiation.

AEBP2

HUNK (Hormonally Up-Regulated Neu-Associated Kinase): HUNK is a gene that encodes a protein kinase regulated by hormonal signals. It has been associated with breast cancer, where its overexpression can promote tumour growth and metastasis. By participating in intracellular signalling pathways influenced by hormones such as oestrogen, HUNK plays a significant role in cancer biology and is being explored as a potential therapeutic target.

HUNK

NDUFA11 (NADH:Ubiquinone Oxidoreductase Subunit A11): NDUFA11 is a gene that encodes a protein component of mitochondrial complex I, the first and largest enzyme complex in the electron transport chain. It supports complex I assembly, stability, and electron transfer from NADH to ubiquinone, aiding in the generation of the proton gradient necessary for ATP production via oxidative phosphorylation. Mutations in NDUFA11 can disrupt energy metabolism and contribute to mitochondrial diseases and related disorders.

NDUFA11

JHY (Jellybean Homologue Y): JHY is a protein involved in intracellular signalling pathways that regulate key aspects of cell behaviour, including proliferation, differentiation, migration, and survival. By influencing these processes, JHY helps maintain cellular homeostasis. Alterations in its expression or function have been linked to pathological conditions, including cancer.

KCNK2 (Potassium Two Pore Domain Channel Subfamily K Member 2): KCNK2 is a gene that encodes a protein forming part of a potassium channel. This channel helps regulate the electrical activity of neurons and plays a key role in controlling neuronal excitability. KCNK2 channels are important for physiological processes such as sleep regulation and anaesthesia. Mutations or dysfunctions in KCNK2 have been linked to neurological conditions like epilepsy and paroxysmal movement disorders.

KCNK2

ASIP (Agouti Signaling Protein): ASIP is a protein that influences pigmentation by regulating melanin production in the skin and hair. It works by blocking melanocortin receptors, which helps determine the type and distribution of melanin. Changes in ASIP expression affect pigmentation patterns, skin cancer risk, and metabolic regulation, highlighting its important roles in both colouration and metabolic health.

ASIP

GNB3: GNB3 is a gene that encodes a subunit of G proteins, which assist in transmitting signals from outside the cell to its interior. A well-known variant (C825T) has been associated with traits such as hypertension and obesity, making GNB3 significant in studying disease risk and individual responses to medications.

GNB3

UPB1 (Beta-Ureidopropionase 1): UPB1 is an enzyme involved in the breakdown of pyrimidines, which are the building blocks of nucleotides in the body. Proper functioning of UPB1 is crucial for nucleotide metabolism, and deficiencies can lead to beta-ureidopropionase deficiency, a rare disorder associated with neurological symptoms and developmental delays.

UPB1

SH3YL1 (SH3 And SYLF Domain Containing 1): SH3YL1 is a gene that encodes a protein containing SH3 and SYLF domains, suggesting a role in protein-protein interactions. Although its exact functions are still being researched, SH3YL1 is believed to participate in cellular signalling pathways and the regulation of membrane dynamics.

SH3YL1

ZNF365 (Zinc Finger Protein 365): ZNF365 is a protein belonging to the zinc finger family, known for its function in DNA binding and gene expression regulation. It plays a role in the DNA damage response and repair processes, contributing to genomic stability. Variants of ZNF365 have been associated with an increased risk of diseases such as breast cancer and Crohn’s disease, highlighting its significance in cellular defense and disease susceptibility.

ZNF365

ZNF438, also known as Zinc Finger Protein 438, is a member of the zinc finger protein family, characterised by zinc finger domains that enable DNA binding and protein interactions. These proteins play key roles in regulating gene expression, chromatin remodelling, and RNA processing. ZNF438 primarily functions as a transcription factor, binding to specific DNA sequences to control the activity of target genes, often working together with other transcriptional regulators and chromatin modifiers to fine-tune cellular processes.

STXBP5

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