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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

ATG12 (Autophagy Related 12): ATG12 is a key gene involved in the process of autophagy, a cellular mechanism for degrading and recycling cellular components. This gene plays a crucial role in cellular maintenance and survival, particularly under stress conditions. It's involved in the formation of a conjugate with ATG5, which is essential for the autophagosome formation, a pivotal step in the autophagy pathway. Dysregulation of ATG12 has been linked to various diseases, including cancer and neurodegenerative disorders....

ATG12

FGGY (FGGY Carbohydrate Kinase Domain Containing): FGGY is a carbohydrate kinase involved in carbohydrate metabolism. Its exact role and functions are not fully elucidated, but carbohydrate kinases are known to be important in energy metabolism and may play roles in metabolic disorders....

FGGY

XKR6 (XK Related 6): XKR6 is a less-characterized member of the XK family of proteins, potentially involved in transmembrane transport. Its specific function and implications in human health are not fully understood....

XKR6

GRIN3A (Glutamate Ionotropic Receptor NMDA Type Subunit 3A): GRIN3A encodes a subunit of the NMDA receptor, a crucial component in synaptic plasticity and learning. As a part of the glutamate receptor family, NMDA receptors play a pivotal role in mediating neuronal communication. Their involvement in synaptic transmission and memory formation underscores their significance in neural function and neurological research....

GRIN3A

WNT7BWNT7B (Wnt Family Member 7B): WNT7B is integral to the Wnt signaling pathway, which regulates a wide array of developmental processes, including cell growth, differentiation, and apoptosis. WNT7B is particularly important in embryonic development and the regulation of bone growth and vascularization. Abnormal WNT7B signaling has been implicated in various pathologies, including developmental disorders, fibrosis, and cancer, especially in processes like tumor growth and the aberrant formation of blood vessels. Its involvement in fundamental cellular processes underscores WNT7B's critical role in development and disease....

WNT7B

CNTNAP5 (Contactin-Associated Protein-Like 5): CNTNAP5 is a gene associated with proteins that are part of the contactin-associated protein (CASPR) family. These proteins are involved in neural development and the formation of specialized cell-cell contacts in the nervous system. CNTNAP5 likely contributes to the organization of neural circuits and synaptic function....

CNTNAP5

C10ORF67 (Chromosome 10 Open Reading Frame 67): Also known as SASP, C10ORF67 is implicated in the regulation of cell proliferation and migration. Although its precise molecular function is not fully understood, it has been associated with the signaling pathways that contribute to cellular senescence and the senescence-associated secretory phenotype (SASP). Its role in these processes suggests potential implications for aging, cancer, and tissue regeneration studies....


C10ORF67

XXYLT1 (Xyloside Xylosyltransferase 1): XXYLT1 is involved in the post-translational modification of proteins through the addition of xylose to the serine residues of proteoglycans, a key step in the biosynthesis of glycosaminoglycan chains. This modification is crucial for the function of proteoglycans in the extracellular matrix, affecting cell signaling, adhesion, and migration. Mutations in XXYLT1 can disrupt proteoglycan function and have been linked to developmental abnormalities, underscoring its importance in cellular function and development....

XXYLT1

FFAR4 (Free Fatty Acid Receptor 4): FFAR4, also known as GPR120, is a receptor for omega-3 fatty acids and plays a significant role in metabolic regulation and inflammatory processes. It is involved in the regulation of insulin sensitivity, anti-inflammatory responses, and appetite control. Research suggests that FFAR4 is a potential therapeutic target for metabolic disorders like obesity and type 2 diabetes....

FFAR4

SHISA4 (Shisa Family Member 4): SHISA4 is involved in the regulation of synaptic function and neuronal excitability. It modulates the activity of key receptors in the central nervous system, including AMPA and NMDA receptors, and is implicated in the regulation of neuronal signaling and plasticity. Its role in synaptic modulation makes it a gene of interest in the study of neurological disorders and synaptic dysfunctions....


SHISA4

C11ORF21 (Chromosome 11 Open Reading Frame 21): C11ORF21 represents a gene with currently unknown specific functions. It is one of many genes that have been identified through genomic sequencing but whose roles in cellular processes and potential links to diseases are still under investigation. The study of such genes is part of ongoing research to uncover new aspects of human biology and pathology....

C11ORF21

WNT10A (Wnt Family Member 10A): WNT10A is involved in the Wnt signaling pathway, crucial for regulating cell fate determination, patterning, and morphogenesis. It plays a significant role in the development of skin, hair, teeth, and bones, with mutations leading to a range of developmental disorders....


WNT10A

ZMYM6 (Zinc Finger MYM-Type Containing 6): ZMYM6 is a zinc finger protein thought to be involved in transcriptional regulation and chromatin remodeling. It may play a role in gene expression regulation and has been studied in the context of hematological malignancies. The specific functions of ZMYM6 in normal physiology and disease are still being elucidated....

ZMYM6

DEF8 (Differentially Expressed in FDCP 8 Homolog): DEF8 is involved in endocytic trafficking and signal transduction pathways that regulate cellular growth and differentiation. It acts as a scaffold protein, mediating the interaction between components of signaling pathways and endosomes, which is crucial for the proper distribution and function of cell surface receptors. Dysregulation of DEF8 has been implicated in cancer and immune disorders, emphasizing its role in cellular signaling and membrane trafficking....

DEF8

C16ORF82 (Chromosome 16 Open Reading Frame 82): Also known as FAM173B, C16ORF82 is a lesser-known gene and is currently under research to fully understand its function. Preliminary studies suggest that it may be involved in mitochondrial processes, potentially impacting energy metabolism at the cellular level. Given its mitochondrial association, it could have implications in disorders related to mitochondrial dysfunction, although more research is needed to clarify its specific role....


C16ORF82

C12ORF43 (Chromosome 12 Open Reading Frame 43): C12ORF43 is a protein encoded by a gene located on chromosome 12 with an open reading frame that has been identified in genomic sequencing. While its precise function and role in cellular processes are still being elucidated, studies suggest potential involvement in various biological pathways. This protein may play a role in cellular metabolism, signal transduction, or protein-protein interactions, although further research is needed to fully understand its function. Dysregulation or mutations in C12ORF43 gene expression could potentially contribute to the development of certain diseases or disorders, but specific associations have not yet...


C12ORF43

DGKB (Diacylglycerol Kinase Beta): DGKB is an enzyme that converts diacylglycerol into phosphatidic acid, playing a critical role in lipid signaling pathways. It's involved in various cellular processes, including insulin sensitivity, and neurotransmitter signaling. Dysregulation of DGKB has been associated with metabolic disorders and is of interest in the study of diseases like diabetes and obesity....

DGKB

SORCS3 (Sortilin-Related VPS10 Domain Containing Receptor 3): SORCS3 is a member of the VPS10 domain-containing receptor family and plays a role in protein trafficking and sorting within cells. It is particularly important in the nervous system, where it regulates the trafficking of proteins involved in synaptic function. Dysregulation of SORCS3 has been linked to neurological disorders, including Alzheimer's disease and schizophrenia....


SORCS3

FZD4 (Frizzled Class Receptor 4): FZD4 is a gene that encodes a receptor for Wnt signaling molecules. The Wnt signaling pathway is essential for embryonic development, tissue homeostasis, and stem cell regulation. FZD4's role in this pathway makes it a key player in processes like cell fate determination and tissue regeneration....

FZD4

AXIN2 (Axin 2): AXIN2 is a crucial component of the Wnt signaling pathway, which is involved in cell proliferation, differentiation, and embryonic development. AXIN2 acts as a negative regulator of Wnt signaling, and mutations in this gene are associated with various cancers and developmental disorders, including colorectal cancer and tooth agenesis....

AXIN2

WDR70 (WD Repeat Domain 70): WDR70 is a gene that encodes a protein with a WD repeat domain, known for facilitating protein-protein interactions. This gene is implicated in various cellular processes, including cell cycle regulation and possibly RNA processing. The specific functions of WDR70 are not fully understood, but it's believed to play a role in cellular organization and function....


WDR70

SIPA1L3 (Signal-Induced Proliferation-Associated 1 Like 3): SIPA1L3 is a gene that plays a role in signal transduction and cellular proliferation. It is particularly important in the nervous system, where it contributes to synaptic regulation and neuronal signaling. Abnormalities in SIPA1L3 have potential implications in neurological disorders, possibly affecting cognitive functions and neurodevelopment....


SIPA1L3

ADAMTS8 (A Disintegrin And Metalloproteinase With Thrombospondin Motifs 8): ADAMTS8 is an enzyme that plays a role in the extracellular matrix's remodeling, crucial for tissue development and repair. It is involved in processes such as angiogenesis and can act as an anti-angiogenic factor, potentially inhibiting tumor growth and metastasis. The study of ADAMTS8 focuses on its implications in cancer and vascular diseases, exploring its function as a mediator in pathological processes....

ADAMTS8

FPR1 (Formyl Peptide Receptor 1): FPR1 is a receptor involved in immune responses, particularly in chemotaxis of neutrophils to sites of infection or inflammation. It recognizes formyl peptides, which are signals often associated with microbial invaders....

FPR1

ADAMTSL3 (ADAMTS-Like 3): ADAMTSL3 is part of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) family, proteins involved in extracellular matrix organization and cell-matrix interactions. It is implicated in the modulation of connective tissue structure and has been studied in relation to lung and eye development, as well as in certain connective tissue disorders....

ADAMTSL3

FN3KRP (Fructosamine 3 Kinase-Related Protein): FN3KRP is associated with fructosamine metabolism and may have a role in the regulation of glucose levels. It is related to the enzyme fructosamine 3 kinase and may have implications in glycation processes, which are involved in the formation of advanced glycation end-products (AGEs) and their impact on diabetes and aging-related diseases....

FN3KRP

ADAM10 (A Disintegrin and Metalloproteinase 10): ADAM10, a member of the ADAM (A Disintegrin And Metalloproteinase) family, is a transmembrane protease involved in diverse cellular processes such as cell adhesion, migration, and signaling. It functions primarily as a sheddase, cleaving the extracellular domain of various cell surface proteins, including growth factors, cytokines, adhesion molecules, and cell surface receptors. ADAM10-mediated proteolysis regulates crucial signaling pathways, including Notch, Eph, and cadherin signaling, influencing cell fate determination, tissue development, and homeostasis. Moreover, ADAM10 plays a pivotal role in synaptic plasticity and neurotransmission in the central nervous system. Dysregulation of ADAM10 activity has been...

ADAM10

SPATA32 (Spermatogenesis Associated 32): SPATA32 is primarily expressed in the testis and is believed to play a role in spermatogenesis. Its exact function in male reproductive health and fertility is not fully understood, but it is considered significant in the study of reproductive biology and potentially in fertility-related research and treatments....


SPATA32

SLC16A9 (Solute Carrier Family 16 Member 9): SLC16A9 is a member of the solute carrier family and is involved in transporting small molecules across cell membranes. Its specific substrate and functions are still being elucidated....


SLC16A9

GABPB1: GABPB1, or GA Binding Protein Transcription Factor Beta Subunit 1, is a gene involved in cellular transcription regulation. It encodes a subunit of a transcription factor that regulates genes implicated in cell growth and metabolism. Alterations in GABPB1 have been associated with different types of cancer, highlighting its role in cell proliferation and survival....

GABPB1

SLC1A1

DCDC2C (Doublecortin Domain-Containing Protein 2C): DCDC2C is a member of the doublecortin (DCX) family, which is involved in neuronal migration and axon guidance during brain development. DCDC2C's specific role in neuronal processes and its implications in neurodevelopmental disorders are areas of ongoing research....

DCDC2C

CTRC (Chymotrypsin C): CTRC is a gene encoding the enzyme chymotrypsin C, which is involved in the digestion of proteins in the pancreas. Mutations in this gene can lead to chronic pancreatitis, a condition characterized by inflammation and damage to the pancreas. Research on CTRC is vital for understanding pancreatic diseases and developing treatments for pancreatic dysfunction....

CTRC

ASB3 (Ankyrin Repeat and SOCS Box Protein 3): ASB3 is a protein that contains ankyrin repeats and a SOCS (Suppressor of Cytokine Signaling) box domain. It is involved in protein ubiquitination and degradation pathways. ASB3 plays a role in regulating the turnover of specific cellular proteins....


ASB3

SLC22A23 (Solute Carrier Family 22 Member 23): SLC22A23 belongs to a family of transporters that facilitate the movement of organic ions and small molecules across cell membranes. While the specific substrates and physiological roles of SLC22A23 are not well-established, it is thought to play a role in the transport of organic compounds in various tissues, potentially impacting drug disposition and metabolic processes....


SLC22A23

SLC24A4 (Solute Carrier Family 24 Member 4): SLC24A4 is involved in calcium and sodium ion transport, particularly in the formation of dental enamel and regulation of melanogenesis. Mutations in SLC24A4 are associated with amelogenesis imperfecta, a condition affecting tooth enamel, and may have implications in pigmentation disorders....


SLC24A4

ABCB4 (ATP Binding Cassette Subfamily B Member 4): ABCB4 is a gene encoding a transporter protein involved in the export of phospholipids from liver cells into bile. This gene is critical for maintaining the composition of bile and preventing the buildup of harmful compounds in the liver. Mutations in ABCB4 can lead to liver diseases, including cholelithiasis...

ABCB4

ERG (ETS Transcription Factor ERG): ERG is a member of the ETS transcription factor family and plays a key role in blood vessel development, hematopoiesis, and bone development. Aberrations in ERG have been implicated in the development of certain cancers, particularly prostate cancer and Ewing sarcoma....

SLC35F1 (Solute Carrier Family 35 Member F1): SLC35F1 is a member of the solute carrier family, specifically involved in the transport of nucleotide sugars across cellular membranes. This protein plays a crucial role in the intracellular trafficking and availability of nucleotide sugars, which are essential substrates for glycosylation processes. Glycosylation is a critical post-translational modification that affects protein folding, stability, and interactions, thereby influencing various physiological and pathological processes, including cell signaling, immune response, and cancer progression. The precise function of SLC35F1 in glycosylation underscores its importance in maintaining cellular homeostasis and the proper function of glycoproteins. Dysregulation or mutations...



SLC35F1

ADAMTSL1 (ADAMTS Like 1): ADAMTSL1 is a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) family and is known to be involved in extracellular matrix organization and cell-matrix interactions. While its exact physiological role is not fully understood, its structural similarity to metalloproteinases suggests a potential role in tissue remodeling and development. Dysfunctions in ADAMTSL1 or related proteins could impact processes like cell adhesion, migration, and angiogenesis, with potential implications in developmental disorders and various diseases involving the extracellular matrix....

ADAMTSL1

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

STAT6 (Signal Transducer And Activator Of Transcription 6): STAT6 is critical for signaling pathways triggered by cytokines, particularly those involved in the immune response, such as IL-4 and IL-13, which are key mediators in the development of allergic inflammation. STAT6 activation leads to transcription of genes that promote Th2 cell differentiation, IgE production, and mast cell growth. Its role in allergic responses and asthma makes STAT6 a target for therapeutic interventions aiming to modulate immune reactions in allergic diseases....

STAT6

SLC24A2 (Solute Carrier Family 24 Member 2): SLC24A2 encodes a potassium-dependent sodium/calcium exchanger, which is important for calcium homeostasis in cells. It's particularly expressed in the retina and the brain, suggesting roles in neural function and vision. Mutations or dysfunction in SLC24A2 can have implications for neurological and visual disorders....

SLC24A2

ABHD2 (Abhydrolase Domain Containing 2): ABHD2 is a member of the serine hydrolase superfamily, involved in lipid metabolism and signaling. It acts on various lipid substrates, playing roles in regulating physiological processes such as sperm capacitation, muscle contraction, and thermogenesis. ABHD2's activity in modulating lipid signaling pathways highlights its potential involvement in metabolic disorders and its interest as a target for therapeutic interventions related to fertility, obesity, and metabolic diseases....


ABHD2

SPINK5 (Serine Peptidase Inhibitor, Kazal Type 5): SPINK5 is a crucial gene for skin integrity and immune response, encoding a serine protease inhibitor that regulates the activity of various enzymes in the skin. Mutations in SPINK5 are associated with Netherton syndrome, a severe skin disorder characterized by inflammation, scaling, and increased allergy susceptibility. Its study is vital for understanding skin diseases and developing potential treatments for disorders related to skin barrier dysfunction....


SPINK5

APOC1 (Apolipoprotein C-I): APOC1 is a component of the apolipoprotein family, playing a crucial role in lipid metabolism and transport. It is associated with very low-density lipoproteins (VLDL) and high-density lipoproteins (HDL), contributing to the regulation of triglyceride-rich lipoprotein metabolism. APOC1 acts as an inhibitor of lipoprotein lipase and hepatic lipase, enzymes essential for the hydrolysis of triglycerides, thereby influencing lipid levels in the plasma. Its involvement in lipid metabolism suggests a significant role in cardiovascular health, where dysregulation can lead to conditions such as hyperlipidemia, atherosclerosis, and consequently, cardiovascular disease. Beyond its metabolic functions, APOC1 has been implicated in...


APOC1

ADCY5 (Adenylate Cyclase 5): ADCY5 encodes an enzyme called adenylate cyclase 5, which is responsible for catalyzing the conversion of ATP to cyclic AMP (cAMP). cAMP is a key signaling molecule involved in various cellular processes, including neurotransmission and hormone signaling. ADCY5 plays a role in regulating these processes and has implications in neuropsychiatric disorders and metabolic pathways....

ADCY5

DIAPH3 (Diaphanous-Related Formin 3): DIAPH3 regulates the actin cytoskeleton and is involved in cell shape changes, migration, and adhesion. It has a role in cytoplasmic division during cell division and is associated with auditory neuropathy and other disorders involving cellular motility....

DIAPH3

GADL1 (Glutamate Decarboxylase Like 1): GADL1 is similar to glutamate decarboxylases that synthesize the neurotransmitter GABA, but its specific function is less clear. It may play a role in amino acid metabolism and neurotransmitter synthesis, and is of interest in the study of neurological function and disorders....

GADL1

SLC39A8 (Solute Carrier Family 39 Member 8): SLC39A8 is a transporter protein involved in the cellular uptake of divalent cations, particularly zinc and manganese. It plays a crucial role in metal ion homeostasis and is important for various biological processes, including immune function and neural development. Mutations in SLC39A8 have been associated with multiple health issues, including congenital disorders of glycosylation....

SLC39A8

DDX58 (DExD/H-Box Helicase 58): DDX58, also known as RIG-I, is a key receptor in the innate immune system that recognizes viral RNA. It plays a pivotal role in the antiviral response by inducing the production of interferons and other inflammatory cytokines upon detection of viral replication. DDX58 is essential for the early immune response to a wide range of RNA viruses....

DDX58

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

SLC44A1 (Solute Carrier Family 44 Member 1): SLC44A1, also known as choline transporter-like protein 1, plays a key role in the transport of choline, a critical component in the synthesis of the neurotransmitter acetylcholine and phospholipids in cell membranes. It is involved in various physiological processes, including neurotransmission and cell membrane integrity. Dysregulation of choline transport can impact neurological functions and has been studied in the context of diseases such as Alzheimer's and other neurodegenerative conditions....

SLC44A1

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

ESR1, also known as Estrogen Receptor Alpha, is a protein that belongs to the nuclear hormone receptor family and acts as a transcription factor. It plays a pivotal role in mediating the effects of estrogen, a steroid hormone, in various tissues throughout the body. One of the primary functions of ESR1 is its role in regulating gene expression in response to estrogen binding. In the absence of estrogen, ESR1 resides in the cytoplasm in an inactive state, bound to heat shock proteins. Upon binding of estrogen, ESR1 undergoes a conformational change, dissociates from the heat shock proteins, and translocates to the...

ESR1

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....

ERBIN (Erb-B2 Receptor Tyrosine Kinase 2 Interacting Protein): ERBIN is a protein that interacts with the ErbB2 receptor tyrosine kinase, which is involved in cell growth and differentiation. ERBIN may play a role in modulating the signaling pathways associated with ErbB2 and other cell signaling processes. It has been studied in relation to breast cancer and other cancers where ErbB2 signaling is implicated....

ERBIN

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

BEND5 (BEN Domain Containing 5): BEND5 is a gene that is relatively less understood but is thought to be involved in chromatin organization and gene regulation. The BEN domain suggests a role in DNA binding and transcriptional regulation. Research is ongoing to elucidate its specific functions and its implications in cellular processes and diseases....



BEND5

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

FOLH1 (Folate Hydrolase 1), also known as Prostate-Specific Membrane Antigen (PSMA), is pivotal in folate metabolism, facilitating the conversion of folate to its bioactive forms. This enzyme's action is crucial for DNA synthesis and repair, impacting cell division and growth. FOLH1's expression, particularly in prostate cancer cells, makes it a target for cancer diagnostics and therapeutics. Understanding its function offers potential pathways for treating cancer and addressing folate-related metabolic disorders....

FOLH1

EPS8L3 (Epidermal Growth Factor Receptor Pathway Substrate 8-Like 3): EPS8L3 is a gene associated with the epidermal growth factor receptor (EGFR) pathway, a fundamental signaling cascade in cellular physiology. Its involvement in cell signaling pathways implies roles in cellular responses to external stimuli and possibly cancer development. A deeper understanding of EPS8L3's functions could provide valuable insights into disease mechanisms and therapeutic strategies....

EPS8L3

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

ESD (Esterase D): ESD is an enzyme involved in the hydrolysis of esters and is considered a marker for certain types of cancer, including retinoblastoma. Its role in cellular metabolism and detoxification processes makes it relevant in the study of metabolic pathways and in the diagnosis and monitoring of cancer....

SLC44A5 (Solute Carrier Family 44 Member 5): SLC44A5 is a member of the solute carrier family, proteins that facilitate the transport of various substances across cellular membranes. While the specific substrates and physiological roles of SLC44A5 are not fully elucidated, it may be involved in cellular transport processes critical for maintaining homeostasis and cellular function....


SLC44A5

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

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

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

SPINT2 (Serine Peptidase Inhibitor, Kunitz Type 2): SPINT2, also known as HAI-2 (Hepatocyte Growth Factor Activator Inhibitor-2), is a serine protease inhibitor that plays a crucial role in regulating proteolytic pathways, including those involved in cell growth, migration, and invasion. SPINT2 is particularly important in inhibiting the activity of matriptase, a protease involved in epithelial barrier function and cellular signaling. Loss of SPINT2 function has been associated with increased risk of tumor progression and metastasis, highlighting its role in cancer suppression....

SPINT2

CSTA (Cystatin A): CSTA encodes a cysteine protease inhibitor, playing a critical role in protecting the skin and mucous membranes from protease-mediated damage. It is important in skin integrity and immune defense. Mutations in CSTA can lead to skin disorders and increased susceptibility to certain infections....

CSTA

GALNT13 (Polypeptide N-Acetylgalactosaminyltransferase 13): GALNT13 is a member of the GalNAc-transferase family, which catalyzes the initial step of O-linked glycosylation by transferring N-acetylgalactosamine (GalNAc) to serine and threonine residues of target proteins. GALNT13 specifically modifies protein substrates in the Golgi apparatus, influencing various cellular processes such as protein trafficking, secretion, and cell surface interactions. This enzyme is implicated in the post-translational modification of proteins involved in cell signaling, adhesion, and immune responses, thereby playing a critical role in cellular communication and homeostasis. Dysregulation of GALNT13 has been associated with several diseases, including cancer and metabolic disorders, underscoring its importance in...

GALNT13

CTBP2 (C-Terminal Binding Protein 2): CTBP2 functions as a transcriptional co-repressor and is involved in the regulation of gene expression. It has roles in developmental processes and is implicated in the regulation of pathways related to cancer progression, particularly in its ability to modulate the expression of tumor suppressor genes and oncogenes....

CTBP2

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

SRBD1 (S1 RNA Binding Domain 1): SRBD1 is a gene encoding an RNA-binding protein. RNA-binding proteins play essential roles in post-transcriptional regulation, including mRNA splicing and stability. Further research is needed to fully understand the specific functions of SRBD1....

SRBD1

CTLA4 (Cytotoxic T-Lymphocyte-Associated Protein 4): CTLA4 encodes a protein that is crucial for regulating immune responses by inhibiting the activation of T cells. CTLA4 competes with the co-stimulatory receptor CD28 for binding to CD80/CD86 on antigen-presenting cells. Its role is to prevent excessive T cell activation and maintain immune tolerance. Dysregulation of CTLA4 is associated with autoimmune diseases....

CTLA4

ARHGAP9 (Rho GTPase Activating Protein 9): ARHGAP9 is a GTPase-activating protein that regulates the activity of Rho family GTPases, key regulators of the actin cytoskeleton, and cellular morphology. By modulating the activity of Rho GTPases, ARHGAP9 plays a role in cell migration, adhesion, and proliferation. It has been studied in the context of cancer, where its role in cell movement and invasion can influence tumor metastasis and progression....

ARHGAP9

DES: DES stands for Desmin, a gene that encodes an intermediate filament protein found in muscle cells. Desmin plays a critical role in maintaining the structural integrity and mechanical resilience of muscle cells, particularly in the heart and skeletal muscles. Mutations in DES can lead to various myopathies and cardiomyopathies, reflecting its importance in muscle function and health....

CUBN is a multifunctional protein primarily known for its role in the absorption of various nutrients, including vitamin B12 and proteins such as albumin, from the intestinal tract and renal tubules. This large glycoprotein acts as a receptor, facilitating the endocytosis of ligands bound to its extracellular domains. In the kidney, CUBN works in concert with the endocytic receptor megalin to reabsorb filtered proteins and prevent their loss in urine, thereby maintaining protein homeostasis. Additionally, CUBN plays a critical role in the transportation of vitamin B12 across the intestinal epithelium, a process vital for normal cellular function and metabolism. Dysregulation...

CUBN

DHFR (Dihydrofolate Reductase): DHFR, or dihydrofolate reductase, is a critical enzyme involved in the metabolic pathways that synthesize and repair DNA. It catalyzes the reduction of dihydrofolate to tetrahydrofolate, a cofactor for the synthesis of purines, thymidylate, and several amino acids. This process is essential for cell division and growth. Inhibitors of DHFR, such as methotrexate, are widely used in chemotherapy, as they target rapidly dividing cancer cells by blocking DNA synthesis, highlighting DHFR's crucial role in cellular proliferation and cancer treatment....

DHFR

SLC35F3 (Solute Carrier Family 35 Member F3): SLC35F3 is a member of the solute carrier (SLC) family of transporters and is involved in the transport of various molecules across cell membranes. Its specific substrate and cellular functions are areas of ongoing research....


SLC35F3

CWF19L2 (Cell Cycle And WD Repeat Domain-Containing Protein 19-Like 2): CWF19L2 is a gene that encodes a protein featuring WD repeat domains, which frequently engage in protein-protein interactions. While its precise functions remain under investigation, the presence of WD repeat domains suggests roles in mediating molecular interactions within the cell. Further research is needed to elucidate its specific cellular contributions....

CWF19L2

DEXI (Dexamethasone-Induced Protein): DEXI is induced by glucocorticoids like dexamethasone and is involved in immune responses and cellular stress reactions. Its exact role is still being elucidated, but it may be involved in the regulation of immune system functions....

DEXI

APOBEC1 (Apolipoprotein B mRNA Editing Enzyme, Catalytic Polypeptide 1): APOBEC1 is an RNA-editing enzyme primarily involved in the post-transcriptional modification of apolipoprotein B (apoB) mRNA, leading to the production of a shorter apoB protein form in the intestine. This modification is crucial for lipid metabolism and plays a role in the assembly and secretion of lipoproteins. Dysregulation of APOBEC1 can affect cholesterol homeostasis and is of interest in studies related to cardiovascular diseases and lipid disorders....

APOBEC1

DCSTAMP (Dendritic Cell-Specific Transmembrane Protein): DCSTAMP is important in the immune system, specifically in the formation of osteoclasts and dendritic cells. It plays a role in cell fusion and communication, crucial for bone remodeling and immune responses. Its dysfunction can affect bone density and immune system regulation....

DCSTAMP

ADCY6 (Adenylate Cyclase 6): ADCY6 encodes an enzyme called adenylate cyclase 6, which is responsible for catalyzing the conversion of ATP to cyclic AMP (cAMP). cAMP is a key signaling molecule involved in various cellular processes, including neurotransmission and hormone signaling. ADCY6 plays a role in regulating these processes and has implications in neuropsychiatric disorders and metabolic pathways....

ADCY6

FOXP2 (Forkhead Box P2): FOXP2 is a transcription factor that plays a critical role in the development of speech and language in humans. Mutations in the FOXP2 gene can lead to language deficits and speech disorders. It is considered one of the key genes involved in the evolution of human language....

FOXP2

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

FOXK1 (Forkhead Box K1): FOXK1 is a member of the forkhead box (FOX) family of transcription factors, characterized by a distinct DNA-binding forkhead box. FOXK1 plays a pivotal role in regulating gene expression involved in cell growth, proliferation, differentiation, and longevity. Its significance is particularly noted in muscle development and regeneration, as well as in the regulation of metabolic processes. The activity of FOXK1 has been linked to various pathological conditions, including cancer, making it a gene of interest in both developmental biology and disease research....

FOXK1

CXCL5 (C-X-C Motif Chemokine Ligand 5): CXCL5 is a chemokine involved in the recruitment of neutrophils to sites of inflammation and injury. It plays a crucial role in the body's innate immune response, mediating the inflammation process in various conditions, including infectious diseases and chronic inflammatory disorders. CXCL5 has also been studied for its role in cancer progression, particularly in promoting tumor growth and metastasis through the recruitment and activation of neutrophils in the tumor microenvironment....

CXCL5

DAAM2 (Dishevelled Associated Activator Of Morphogenesis 2): DAAM2 is involved in the regulation of cytoskeletal dynamics and cell morphology. It plays a role in processes such as cell migration and tissue morphogenesis....

DAAM2

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

ACYP2 (Acylphosphatase 2): ACYP2 encodes an enzyme that hydrolyzes acylphosphates, playing a role in energy metabolism. It's particularly involved in muscle physiology, influencing muscle efficiency and endurance. Genetic variations in ACYP2 have been linked to aging processes and age-related disorders, reflecting its role in cellular energy dynamics and possibly in the regulation of lifespan....

ACYP2

CYP4V2 (Cytochrome P450 Family 4 Subfamily V Member 2): CYP4V2 is an enzyme involved in fatty acid and lipid metabolism. It plays a role in the biosynthesis of fatty acid epoxides, which have various physiological functions, including in the regulation of blood pressure and inflammation. Mutations in CYP4V2 are associated with Bietti's crystalline dystrophy, a rare genetic eye disorder that affects the retina and can lead to progressive vision loss, highlighting its role in ocular health and lipid processing....

CYP4V2

CSNK2A1 (Casein Kinase 2 Alpha 1): CSNK2A1 encodes the alpha subunit of casein kinase 2, a serine/threonine protein kinase involved in various cellular processes, including cell growth, proliferation, and signal transduction. Dysregulation of CSNK2A1 has been linked to cancer and developmental disorders....

CSNK2A1

CYP4F2 (Cytochrome P450 Family 4 Subfamily F Member 2): CYP4F2 is part of the cytochrome P450 family, involved in metabolizing fatty acids, drugs, and toxins. It plays a role in vitamin K and eicosanoid metabolism, affecting blood clotting and inflammation processes. Genetic variations in CYP4F2 can influence responses to certain medications, especially anticoagulants....

CYP4F2

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

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

ACP1 (Acid Phosphatase 1, Soluble): ACP1 encodes an enzyme that functions in various cellular processes, including signal transduction and energy metabolism. It has several isoforms with different roles, potentially influencing immune responses and cellular signaling pathways. Variants of ACP1 have been linked to susceptibility to certain autoimmune diseases and metabolic conditions....

ACP1

CYP2C9 (Cytochrome P450 Family 2 Subfamily C Member 9): CYP2C9 is a key enzyme in the cytochrome P450 enzyme family, responsible for the metabolism of various drugs and endogenous compounds. It plays a significant role in the detoxification and clearance of substances in the liver. Genetic variations in CYP2C9 can affect drug metabolism, influencing drug efficacy and toxicity, and are important considerations in personalized medicine for determining appropriate drug dosages for individual patients....

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