DNA

ABHD2 (Abhydrolase Domain Containing 2) is a gene that codes for an enzyme in the serine hydrolase family, which is involved in lipid metabolism and signaling. This enzyme targets lipid molecules and plays crucial roles in processes such as sperm capacitation, muscle contraction, and heat production. The function of ABHD2 in lipid regulation makes it a significant factor in metabolism and a potential target for therapies addressing fertility issues, obesity, and metabolic health.

ADAM10 (A Disintegrin and Metalloproteinase 10) is a protein that serves as a transmembrane protease, playing a role in regulating cell adhesion, migration, and signaling. It operates by cleaving the extracellular portions of various cell surface proteins, including growth factors and receptors, impacting key pathways such as Notch and cadherin signaling. ADAM10 is essential for tissue development, cell communication, and nervous system function.

ADAMTS10 (A Disintegrin and Metalloproteinase with Thrombospondin Motifs 10) is a gene that encodes a protein involved in remodeling the extracellular matrix, particularly in connective tissues. It plays a crucial role in tissue development and repair, especially within cartilage and bone. Variants of ADAMTS10 have been associated with connective tissue disorders and skeletal abnormalities.

ADAMTSL3 (ADAMTS-Like 3) is a gene that encodes a protein belonging to the ADAMTS family, which is involved in organizing the extracellular matrix and regulating cell-matrix interactions. This protein plays a role in maintaining connective tissue structure and has been linked to lung and eye development, as well as certain connective tissue disorders.

ADARB1 (Adenosine Deaminase RNA-Specific B1) is a gene that encodes an enzyme involved in RNA editing—a process that modifies RNA molecules after transcription. This editing can impact RNA stability, function, and gene expression. ADARB1 plays a critical role in brain function and has been associated with the regulation of neural activity and neurological disorders.

ADCY5 (Adenylate Cyclase 5) is a gene that encodes an enzyme responsible for converting ATP into cyclic AMP (cAMP), a crucial signaling molecule. This enzyme helps regulate key cellular functions such as neurotransmission and hormone signaling, and it may impact neurological and metabolic processes.

ADCY6 (Adenylate Cyclase 6) is a gene that encodes an enzyme responsible for converting ATP into cyclic AMP (cAMP), an essential signaling molecule in the body. cAMP plays a crucial role in processes such as neurotransmission, hormone signaling, and cellular communication. Through these functions, ADCY6 may impact brain activity, metabolic regulation, and neuropsychiatric health.

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

ADH1A (Alcohol Dehydrogenase 1A) is a gene that encodes an enzyme responsible for breaking down alcohol in the liver. It catalyzes the conversion of ethanol into acetaldehyde, a crucial step in alcohol metabolism. Variations in ADH1A can affect how the body processes alcohol and may influence individual susceptibility to alcohol-related disorders.

ADM (Adrenomedullin) is a peptide hormone involved in regulating the cardiovascular system and circulation. It helps control blood pressure through its vasodilatory effects and supports fluid balance. ADM also plays a role in modulating immune responses and may have protective functions in cardiovascular health.

AGBL1 (ATP/GTP-binding protein-like 1) is a protein that is part of the ATP/GTP-binding protein-like family, involved in cellular processes related to nucleotide binding and hydrolysis. It plays key roles in cytoskeletal organization, vesicular trafficking, and signal transduction by regulating nucleotide metabolism dynamics. AGBL1 is crucial for maintaining cellular homeostasis and coordinating responses to external signals. Dysregulation of AGBL1 has been associated with various diseases, including neurodegenerative disorders, cancer, and immune system dysfunction, underscoring its importance in cell function and disease.

AGPAT2 (1-acylglycerol-3-phosphate O-acyltransferase 2) is a crucial enzyme involved in lipid metabolism, specifically in the synthesis of phospholipids and triglycerides. It catalyzes the conversion of lysophosphatidic acid (LPA) to phosphatidic acid (PA), a key step in the Kennedy pathway for triacylglycerol production. AGPAT2 plays vital roles in adipocyte differentiation, lipid storage, and membrane formation. Dysregulation of AGPAT2 activity has been linked to metabolic conditions such as obesity, insulin resistance, and dyslipidemia, while mutations in the AGPAT2 gene are associated with congenital generalized lipodystrophy type 1 (CGL1), a rare genetic disorder affecting fat distribution.

AHI1 (Abelson Helper Integration Site 1) is a gene involved in ciliogenesis and cellular signaling, essential for proper brain development and function. Mutations in AHI1 are linked to Joubert syndrome — a rare genetic disorder characterized by developmental delays, cerebellar malformations, and neurological impairments.

ALCAM (Activated Leukocyte Cell Adhesion Molecule) is a protein that plays a vital role in cell-to-cell adhesion, allowing cells to interact, migrate, and locate specific sites in the body. It is involved in essential processes such as nerve development, immune system regulation, and tissue repair. Dysregulation of ALCAM has been associated with cancer metastasis, autoimmune diseases, and other pathological conditions.

ANKRD30A (Ankyrin Repeat Domain 30A) is a gene that encodes a protein containing ankyrin repeat domains, which facilitate protein-protein interactions. This protein is primarily expressed in breast tissue and has been linked to breast cancer, where it may serve as a potential biomarker or therapeutic target in research and treatment.

APOC1 (Apolipoprotein C-I) is a protein belonging to the apolipoprotein family, involved in lipid metabolism and transport. It is associated with very low-density lipoproteins (VLDL) and high-density lipoproteins (HDL), helping regulate the breakdown of triglyceride-rich lipoproteins. By inhibiting enzymes such as lipoprotein lipase and hepatic lipase, APOC1 affects blood lipid levels and plays a key role in cardiovascular health. Dysregulation of APOC1 function can contribute to conditions like hyperlipidemia and atherosclerosis.

ARPC1B (Actin Related Protein 2/3 Complex Subunit 1B) is a gene that encodes a part of the ARP2/3 complex, a crucial regulator of actin cytoskeleton organization and cell movement. It is vital for proper immune cell function and the body's defense against infections. Mutations in ARPC1B can lead to a rare immunodeficiency disorder called ARPC1B deficiency, which compromises the immune response.

ARSA (Arylsulfatase A) is an enzyme that breaks down sulfatides — complex lipids found in many tissues, especially in the nervous system. A deficiency in ARSA, often caused by genetic mutations, results in the accumulation of sulfatides and can lead to Metachromatic Leukodystrophy (MLD), a rare disorder characterized by the progressive loss of nerve insulation (demyelination) and severe neurological deterioration.

ARSB (Arylsulfatase B) is an enzyme responsible for breaking down certain glycosaminoglycans, particularly dermatan sulfate. Proper ARSB activity helps prevent the buildup of these molecules in tissues. Deficiency or mutations in ARSB lead to Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome), a condition marked by skeletal abnormalities, organ involvement, and other systemic effects from dermatan sulfate accumulation.

AS3MT (Arsenic (+3) Methyltransferase) is a gene that encodes an enzyme involved in the detoxification of arsenic, a toxic environmental metalloid. This enzyme facilitates the methylation of arsenic, enabling it to be more easily eliminated from the body. AS3MT plays a crucial role in arsenic metabolism and may affect an individual’s susceptibility to arsenic-related health effects.

ATF7 (Activating Transcription Factor 7) is a gene that encodes a transcription factor involved in regulating cellular responses to stress. As part of the ATF/CREB family, it helps control gene expression related to apoptosis, development, and neuronal survival. ATF7 activity is important for maintaining cellular balance, and its dysregulation has been linked to stress-related conditions such as neurodegenerative diseases and cancer.

ATG12 (Autophagy Related 12) is a gene vital for the autophagy process — a cellular system that breaks down and recycles damaged components. ATG12 forms a complex with ATG5, a crucial step in forming autophagosomes. This function supports cell survival under stress and helps maintain cellular health. Disruptions in ATG12 activity have been linked to conditions such as cancer and neurodegenerative diseases.

ATP1B2 (Sodium/potassium-transporting ATPase subunit beta-2) is a protein that functions as part of the Na⁺/K⁺-ATPase pump — a crucial enzyme complex responsible for maintaining the balance of sodium and potassium ions across cell membranes. This balance is essential for key physiological processes such as nerve signaling, muscle contraction, and regulation of cell volume. As a beta subunit, ATP1B2 supports the assembly, stability, and membrane localization of the pump through its interaction with the catalytic alpha subunit.

ATP2B2 (ATPase Plasma Membrane Ca²⁺ Transporting 2) is a gene that encodes a calcium pump responsible for regulating intracellular calcium levels. This pump plays a crucial role in various cellular processes such as signal transduction, muscle contraction, and neurotransmitter release. Mutations in ATP2B2 have been linked to hearing loss and vestibular disorders, underscoring its importance in maintaining calcium balance within sensory hair cells essential for hearing and balance.

BAIAP2L1 (Brain-specific angiogenesis inhibitor 1-associated protein 2-like 1) is a gene that encodes a protein involved in cellular structure and signaling. As a member of the I-BAR domain-containing protein family, BAIAP2L1 plays a key role in actin cytoskeleton remodeling, membrane shaping, and cell movement. Its I-BAR domain enables interaction with actin filaments and membrane phospholipids, contributing to the formation of dynamic structures like filopodia and lamellipodia.

BEND5 (BEN Domain Containing 5) is a gene that encodes a protein believed to be involved in chromatin organization and gene regulation. Its BEN domain suggests a role in DNA binding and controlling gene expression. While its exact functions are still being studied, BEND5 may influence key cellular processes and disease mechanisms.

BTN2A2 (Butyrophilin Subfamily 2 Member A2) is a gene that encodes a protein from the butyrophilin family, which helps regulate immune responses. This protein plays a role in modulating T-cell activity and may affect how the immune system responds to pathogens, antigens, and inflammatory signals.

C11ORF21 (Chromosome 11 Open Reading Frame 21) is a gene with a currently unclear or uncharacterized biological function. Although it has been identified through genomic studies, its specific role in cellular activity and potential links to health or disease are still being investigated as part of ongoing research in human genetics.

C12ORF43 (Chromosome 12 Open Reading Frame 43) is a gene that codes for a protein with an as-yet unclear function. Although research is ongoing, this protein may play a role in key cellular processes such as metabolism, signal transduction, or protein interactions. Its precise role and impact on health are not fully understood, but changes in its expression could potentially affect disease development.

C16ORF82 (Chromosome 16 Open Reading Frame 82), also known as FAM173B, is a gene that is still under investigation to determine its function. Early studies indicate it may be involved in mitochondrial processes, contributing to cellular energy metabolism. Due to this mitochondrial connection, it might play a role in conditions linked to mitochondrial dysfunction, although further research is necessary to clarify its precise function.

CES1 (Carboxylesterase 1): CES1 is an enzyme that plays a role in metabolizing various drugs, such as clopidogrel, methylphenidate, and certain antiviral and chemotherapy medications. Genetic variations in CES1 can influence how drugs are activated and broken down, affecting both their therapeutic effects and the likelihood of side effects. Testing for CES1 can help tailor drug dosing and enhance treatment effectiveness.

CHD6 (Chromodomain Helicase DNA Binding Protein 6) is a gene that encodes a protein involved in chromatin remodeling, which helps regulate gene expression and maintain genomic stability. This protein plays a key role in cellular development and differentiation, and disruptions in its function have been linked to certain cancers.

CUBN (Cubilin) is a multifunctional receptor protein involved in the absorption and transport of key nutrients, including vitamin B12 and various proteins such as albumin. It plays a vital role in the kidneys and intestines, where it helps reabsorb filtered proteins and supports nutrient uptake. In the kidney, CUBN works alongside megalin to maintain protein balance, while in the gut, it is essential for the efficient transport of vitamin B12, supporting normal metabolism and cellular function.

CYP2B6 (Cytochrome P450 Family 2 Subfamily B Member 6): CYP2B6 is an enzyme involved in the metabolism of several drugs, including bupropion, efavirenz, methadone, and certain anesthetics. Genetic variations in CYP2B6 influence enzyme activity, affecting drug metabolism, efficacy, and the risk of side effects. Testing for CYP2B6 can help tailor medication dosing and minimize the risk of adverse reactions.

CYP2C19 (Cytochrome P450 Family 2 Subfamily C Member 19): CYP2C19 is an enzyme that helps metabolize medications such as proton pump inhibitors, antidepressants, and clopidogrel. Genetic differences can affect enzyme activity, impacting drug effectiveness and the likelihood of side effects. Testing for CYP2C19 can assist in optimizing medication dosing and treatment decisions.

CYP3A4 (Cytochrome P450 Family 3 Subfamily A Member 4): CYP3A4 is a key enzyme in drug metabolism, responsible for the breakdown of a wide variety of medications, including statins, immunosuppressants, benzodiazepines, and certain chemotherapy agents. Genetic differences in CYP3A4 can impact how drugs are cleared from the body, influencing both effectiveness and the likelihood of side effects. Testing for CYP3A4 can assist in optimizing medication dosing for safer and more effective treatment.

DCSTAMP (Dendritic Cell-Specific Transmembrane Protein) is a gene that encodes a protein involved in immune function and bone health. It plays a key role in the fusion of cells to form osteoclasts and dendritic cells, which are essential for bone remodeling and immune response. Disruption of DCSTAMP can impact bone density and immune system regulation.

DDI1 (DNA-Damage Inducible 1 Homolog 1) is a protein involved in essential cellular functions such as DNA repair, cell cycle control, and the ubiquitin-proteasome pathway. It plays a vital role in the response to DNA damage by functioning as a ubiquitin-dependent protease, aiding in the degradation of specific proteins to preserve cellular health. Because of its diverse functions, DDI1 is crucial for protecting cells from stress and may be associated with cancer and other diseases linked to DNA damage and repair.

DDX58 (DExD/H-Box Helicase 58), also known as RIG-I, is a protein that functions as a receptor in the innate immune system. It detects viral RNA and helps initiate the body’s early antiviral response by promoting the production of interferons and inflammatory signals. DDX58 is crucial for recognizing and combating many types of RNA viruses.

DEF8 (Differentially Expressed in FDCP 8 Homolog) is a gene involved in endocytic trafficking and cellular signaling. It acts as a scaffold protein, facilitating interactions between signaling molecules and endosomes—essential for proper receptor function and cell communication. Alterations in DEF8 activity have been associated with cancer and immune-related disorders.

DGKB (Diacylglycerol Kinase Beta) is an enzyme that plays a crucial role in lipid signaling by converting diacylglycerol into phosphatidic acid. It is involved in key cellular processes such as insulin sensitivity and neurotransmitter signaling. Alterations in DGKB function have been associated with metabolic disorders and are researched in connection with conditions like diabetes and obesity.

DIO1 (Type 1 Deiodinase) is an enzyme that controls thyroid hormone activity by converting thyroxine (T4) — the inactive form — into triiodothyronine (T3), the active form. Primarily located in the liver, kidney, and thyroid gland, DIO1 plays a crucial role in maintaining optimal thyroid hormone levels and supporting tissue-specific metabolic responses.

DNMT3B (DNA Methyltransferase 3 Beta) is a gene that encodes an enzyme involved in DNA methylation—an important epigenetic mechanism that regulates gene expression. DNMT3B plays a crucial role in development and has been associated with conditions such as ICF syndrome and various types of cancer.

DOCK10 (Dedicator of Cytokinesis 10) is a gene involved in remodeling the actin cytoskeleton, contributing to the activation and movement of immune cells, particularly T cells and B cells. It plays a crucial role in regulating immune responses and may be linked to autoimmune diseases and immune system disorders.

DOCK3 (Dedicator Of Cytokinesis 3) is a protein that plays a crucial role in remodeling the actin cytoskeleton and regulating cell movement. It is particularly important in the nervous system, where it supports neural development and synaptic function. Dysregulation of DOCK3 has been linked to neurodegenerative diseases.

DOK5 (Docking Protein 5) is a member of the DOK family of adaptor proteins that serve as substrates for receptor tyrosine kinases and facilitate intracellular signal transmission. It plays key roles in pathways regulating cell growth, differentiation, and survival. DOK5 is especially involved in neuronal development and has been associated with insulin signaling, making it important for both nervous system formation and metabolic regulation.

DPYD (Dihydropyrimidine Dehydrogenase): DPYD is an enzyme that breaks down fluoropyrimidine drugs such as 5-fluorouracil (5-FU) and capecitabine, which are commonly used in cancer treatment. Genetic variations in DPYD can reduce the enzyme's activity, increasing the risk of severe toxicity, including bone marrow suppression and gastrointestinal side effects. Testing for DPYD helps identify individuals who may need dose adjustments or alternative treatments to enhance safety and effectiveness.

EIF4G3 (Eukaryotic Translation Initiation Factor 4 Gamma 3) is a gene that encodes a crucial component of the eIF4F complex, which participates in the initiation of protein synthesis. It plays a key role in recruiting ribosomes to mRNA, allowing for efficient translation and protein production. Proper function of EIF4G3 is essential for cell growth and differentiation, while its dysregulation may contribute to diseases such as cancer, where protein synthesis is frequently altered.

ENPEP (Glutamyl Aminopeptidase) is a gene that encodes an enzyme involved in regulating blood pressure and fluid balance. It functions within the angiotensin pathway by processing angiotensin II, a molecule that causes blood vessels to constrict. Changes in ENPEP activity have been linked to hypertension and cardiovascular conditions, making it a focus of research in vascular health.

ERBIN (Erb-B2 Receptor Tyrosine Kinase 2 Interacting Protein) is a protein that interacts with the ErbB2 receptor, which plays a key role in cell growth and differentiation. ERBIN helps regulate signaling pathways associated with ErbB2 and other cellular functions, and it has been studied for its potential involvement in cancers where ErbB2 activity is a factor, such as breast cancer.

ESD (Esterase D) is a gene that encodes an enzyme involved in breaking down ester compounds in the body. It plays a role in cellular metabolism and detoxification. ESD is also considered a potential biomarker for certain cancers, such as retinoblastoma, and may be useful for studying metabolic pathways and monitoring disease progression.

ESR1 (Estrogen Receptor Alpha) is a protein that belongs to the nuclear hormone receptor family and functions as a transcription factor. It plays a key role in mediating the effects of estrogen, a steroid hormone, by regulating gene expression in various tissues. ESR1 is typically inactive in the cytoplasm but becomes active and translocates to the cell nucleus upon binding to estrogen, where it influences cellular processes.

EXTL2 (Exostosin-Like Glycosyltransferase 2) is a gene that encodes an enzyme involved in producing heparan sulfate, a crucial component of the extracellular matrix. Heparan sulfate interacts with various growth factors and signaling molecules, playing key roles in cell proliferation, adhesion, and differentiation. EXTL2’s role in heparan sulfate synthesis highlights its significance in development and maintaining tissue health.

FABP2 (Fatty Acid Binding Protein 2) is a protein responsible for the intracellular transport of long-chain fatty acids and their acyl-CoA derivatives. It plays a crucial role in the absorption and metabolism of fatty acids within the intestine. Variations in FABP2 can affect lipid metabolism and are associated with metabolic disorders such as diabetes and obesity.

FAM160A2 (Family with Sequence Similarity 160 Member A2) is a gene with currently limited characterized information. Although its exact biological function is still unknown, ongoing studies aim to reveal its role and potential importance in human health and disease.

FAM171A1 (Family With Sequence Similarity 171 Member A1) is a protein-coding gene that is currently not well characterized. It is believed to be involved in cellular processes such as protein interactions and signal transduction, although its precise roles in human health and disease are still being studied.

FAM9A (Family with Sequence Similarity 9 Member A) is a protein-coding gene that is part of a family of genes with shared sequence similarities. Although its specific functions are still being investigated and are not completely understood, FAM9A is expressed in multiple tissues, including the brain, testis, and ovaries. This indicates it may have roles in critical cellular processes within these organs. Genes in the FAM family commonly contribute to cell signaling, transcription regulation, or protein interactions, but the precise functions of FAM9A are still under study.

FDX1 (Ferredoxin 1) is a mitochondrial protein involved in electron transport, playing a key role in various metabolic pathways such as steroid hormone synthesis and cellular detoxification. It also contributes to the formation of iron-sulfur clusters — essential cofactors for numerous enzymes. Disruptions in FDX1 function can affect energy production and have been linked to mitochondrial-related diseases.

FGGY (FGGY Carbohydrate Kinase Domain Containing) is a gene that encodes a protein involved in carbohydrate metabolism. Although its precise functions are not yet fully understood, proteins in this family generally play roles in energy production and may be associated with metabolic processes and disorders.

FHIT (Fragile Histidine Triad Diadenosine Triphosphatase) is a tumor suppressor gene involved in purine metabolism. It plays a crucial role in maintaining genomic stability, and its loss or alteration has been linked to various cancers, underscoring its significance in preventing tumor development.

FN3KRP (Fructosamine 3 Kinase-Related Protein) is a protein involved in fructosamine metabolism and may help regulate glucose levels in the body. It is related to the enzyme fructosamine 3 kinase and may influence glycation processes, which are linked to the formation of advanced glycation end-products (AGEs) that affect diabetes and aging-related conditions.

FOLH1 (Folate Hydrolase 1), also known as Prostate-Specific Membrane Antigen (PSMA), is a gene involved in folate metabolism and the activation of folate for DNA synthesis and repair. It plays a key role in cell growth and division. FOLH1 is notably expressed in prostate cancer cells, making it a valuable target for cancer diagnosis and therapy.

FOXP2 (Forkhead Box P2) is a gene that encodes a transcription factor essential for speech and language development. It plays a key role in neural circuits related to communication. Mutations in FOXP2 have been linked to speech and language impairments, making it a critical gene in the study of human language and its evolution.

FPR1 (Formyl Peptide Receptor 1) is a receptor that plays a crucial role in the immune system by directing neutrophils to sites of infection or inflammation. It recognizes formyl peptides, which serve as signals indicating the presence of microbial invaders, aiding the body in mounting an effective immune response.

FRMD4B (FERM Domain Containing 4B) is a protein that connects the cell membrane to the cytoskeleton, supporting essential cellular processes such as signal transduction, cell shape, and migration. It helps regulate cell polarity, membrane organization, and the development of neuronal networks. Dysregulation of FRMD4B may play a role in neurological disorders.

FZD4 (Frizzled Class Receptor 4) is a gene that encodes a receptor involved in the Wnt signaling pathway. This pathway is essential for embryonic development, tissue maintenance, and stem cell regulation. FZD4 helps regulate cell growth and differentiation, playing a key role in tissue regeneration and determining cell fate.

GABPB1 (GA Binding Protein Transcription Factor Beta Subunit 1) is a gene that encodes a subunit of a transcription factor involved in regulating genes associated with cell growth and metabolism. It plays a role in controlling cellular transcription, and alterations in GABPB1 expression have been linked to various cancers, highlighting its impact on cell proliferation and survival.

GAD2 (Glutamate Decarboxylase 2): GAD2 is essential for the production of gamma-aminobutyric acid (GABA), a key neurotransmitter in the brain. It contributes to the control of neuronal excitability and has been linked to conditions such as epilepsy and anxiety disorders.

HTR2C (5-Hydroxytryptamine Receptor 2C): HTR2C is a serotonin receptor subtype implicated in the regulation of mood, appetite, and sexual behavior. It plays a role in various CNS functions and is a target for certain psychiatric medications. Dysfunctions or genetic variations in HTR2C have been linked to psychiatric conditions, including depression, anxiety, and schizophrenia, as well as to metabolic disorders....

JAML (Junctional Adhesion Molecule Like) is a cell adhesion molecule that plays a crucial role in regulating the movement of leukocytes across epithelial and endothelial barriers. This process is essential for the immune response, allowing immune cells to migrate from the bloodstream into tissues during injury or infection. JAML mediates cell-to-cell interactions vital for inflammation and immune surveillance, making it a key focus for understanding and treating inflammatory diseases and immune disorders.

Meat from young sheep, commonly eaten in various cuisines. It can cause allergic reactions in some people.

Latex allergy is an immune response triggered by natural rubber latex, a material derived from the sap of rubber trees. Commonly found in medical supplies and everyday products, latex can cause reactions ranging from mild skin irritation to severe anaphylaxis in sensitive individuals.

LPP (LIM Domain Containing Preferred Translocation Partner In Lipoma) is a protein involved in regulating cell adhesion, migration, and the organization of the actin cytoskeleton. It plays a key role in forming focal adhesions and stress fibers, which connect the cytoskeleton to the extracellular matrix. LPP’s function is essential for controlling cell movement and maintaining cellular structure. Changes in LPP have been linked to the development of lipomas and other tumors, highlighting its importance in cell biology and cancer research.

PATJ (Pals1-Associated Tight Junction Protein) is a protein associated with tight junctions, which are crucial structures for maintaining the integrity of epithelial and endothelial cell layers. PATJ plays a vital role in establishing cell polarity and forming cell-to-cell junctions. It is essential for preserving tissue barrier function.

PLAUR (Plasminogen Activator, Urokinase Receptor) is a gene that encodes a receptor involved in proteolysis and cell movement. It supports tissue remodeling and wound healing by assisting in the conversion of plasminogen to plasmin, an enzyme that breaks down fibrin and components of the extracellular matrix. Elevated levels of PLAUR have been linked to tumor growth and metastasis, emphasizing its role in cancer progression and its potential as a therapeutic target.

RYR1 (Ryanodine Receptor 1) is a gene that encodes a calcium channel protein essential for muscle contraction. Variants in RYR1 are associated with malignant hyperthermia, a rare but severe reaction to certain anesthetics. Detecting RYR1 mutations can help evaluate risk and guide safer anesthesia decisions during surgery.

SIPA1L3 (Signal-Induced Proliferation-Associated 1 Like 3) is a gene involved in signal transduction and cell growth. It plays a key role in the nervous system by supporting synaptic function and neuronal communication. Alterations in SIPA1L3 may impact brain development and cognitive function, potentially contributing to neurological disorders.

SLC16A9 (Solute Carrier Family 16 Member 9) is a gene that encodes a protein from the solute carrier family, which assists in transporting small molecules across cell membranes. Although its precise substrates and functions are still under investigation, SLC16A9 contributes to cellular transport processes.

SLC24A4 (Solute Carrier Family 24 Member 4) is a gene involved in the transport of calcium and sodium ions, playing a crucial role in the formation of dental enamel and pigmentation processes. Variants of SLC24A4 are associated with amelogenesis imperfecta, a condition that impacts tooth enamel, and may also contribute to pigmentation-related disorders.

SLC35F3 (Solute Carrier Family 35 Member F3) is a gene that encodes a transporter protein belonging to the solute carrier (SLC) family, which is responsible for moving molecules across cell membranes. Although its precise function and substrates are still being studied, SLC35F3 is thought to play a role in cellular transport and metabolic processes.

SLC39A8 (Solute Carrier Family 39 Member 8) is a gene that encodes a transporter protein responsible for the cellular uptake of key divalent metals such as zinc and manganese. This protein supports the maintenance of metal ion balance, which is vital for immune function, brain development, and various other biological processes. Variations in SLC39A8 have been associated with multiple health conditions, including congenital disorders related to glycosylation.

SLC44A5 (Solute Carrier Family 44 Member 5) is a gene that encodes a membrane transport protein belonging to the solute carrier family. Although its specific functions and substrates are not fully defined, SLC44A5 is believed to play a role in essential cellular transport processes involved in maintaining homeostasis and normal cell function.

SLC6A16 (Solute Carrier Family 6 Member 16) is a gene that encodes a transporter protein responsible for the movement of amino acids and neurotransmitters within the nervous system. It plays a crucial role in maintaining neurotransmitter balance, and disruptions in its function may be associated with neurological disorders.

SLCO1B1 (Solute Carrier Organic Anion Transporter Family Member 1B1): SLCO1B1 is a transporter protein that helps move drugs, including statins, into liver cells for metabolism. Genetic variations in SLCO1B1 can reduce transporter function, leading to higher drug levels in the blood and an increased risk of statin-induced muscle side effects. Testing SLCO1B1 can help guide statin selection and dosing to minimize adverse effects.

SORCS3 (Sortilin-Related VPS10 Domain Containing Receptor 3) is a protein that is part of the VPS10 domain-containing receptor family, which is involved in protein trafficking and sorting within cells. It plays a crucial role in the nervous system by regulating the transport of proteins essential for synaptic function. Alterations in SORCS3 activity have been linked to neurological disorders such as Alzheimer's disease and schizophrenia.

SPATA32 (Spermatogenesis Associated 32) is a gene primarily expressed in the testis and is believed to play a role in the process of spermatogenesis. Although its exact function in male reproductive health and fertility is not yet fully understood, SPATA32 is considered significant for research in reproductive biology and fertility.

SPPL3 (Signal Peptide Peptidase-Like 3) is an enzyme belonging to the intramembrane-cleaving protease family that processes specific transmembrane proteins. By releasing intracellular domains from its substrates, SPPL3 affects cellular signaling and regulation. It plays a crucial role in immune system function, including B cell maturation, and has been associated with certain autoimmune diseases. Research on SPPL3 helps to uncover how intramembrane proteolysis influences human health and disease.

STAT6 (Signal Transducer And Activator Of Transcription 6) is a protein that plays a crucial role in immune signaling pathways, particularly those activated by cytokines such as IL-4 and IL-13. It regulates allergic inflammation by promoting the development of Th2 cells, the production of IgE antibodies, and the proliferation of mast cells. Due to its role in allergic responses and asthma, STAT6 is a key target for therapies designed to control immune reactions in allergic diseases.

STEAP1B (STEAP Family Member 1B) is a protein that belongs to the Six Transmembrane Epithelial Antigen of the Prostate (STEAP) family. It is involved in metalloreduction, specifically the reduction of iron and copper ions. STEAP1B plays a role in regulating cellular iron homeostasis and metabolism, which are essential for many physiological functions. Although its exact role in human health and disease is still being studied, STEAP1B may have important implications for understanding iron-related metabolic pathways.

VIPR2 (Vasoactive Intestinal Peptide Receptor 2) is a gene that encodes a receptor for vasoactive intestinal peptide (VIP), a neuropeptide involved in regulating smooth muscle relaxation, immune responses, and neurotransmission. This receptor is found on the surface of cells in various tissues and plays a crucial role in mediating VIP signaling pathways.

VKORC1 (Vitamin K Epoxide Reductase Complex Subunit 1): VKORC1 is an enzyme that plays a role in recycling vitamin K, which is crucial for blood clotting. Genetic variations in VKORC1 affect sensitivity to vitamin K antagonists such as warfarin, influencing dosage needs and bleeding risk. Testing for VKORC1 can help customize anticoagulant therapy for safer and more effective treatment.

WDR70 (WD Repeat Domain 70) is a gene that encodes a protein containing WD repeat domains, which help facilitate protein-protein interactions. This protein plays a role in important cellular processes such as cell cycle regulation and may also be involved in RNA processing. Although its precise functions are still under investigation, WDR70 is believed to contribute to cellular organization and overall cell function.

WNT10A (Wnt Family Member 10A) is a gene that plays a crucial role in the Wnt signaling pathway, which is vital for regulating cell growth, development, and tissue formation. It is especially significant in the development of skin, hair, teeth, and bones. Variations or mutations in WNT10A have been associated with several developmental disorders affecting these structures.

WNT7B (Wnt Family Member 7B) is a gene involved in the Wnt signaling pathway, which plays a key role in embryonic development, cell growth, and tissue regeneration. WNT7B helps regulate gene expression and cell behavior. Dysregulation of WNT7B signaling has been linked to developmental disorders, fibrosis, and cancer, highlighting its importance in cell proliferation and disease progression.

WNT7B (Wnt Family Member 7B) is a gene that plays a key role in the Wnt signaling pathway, which controls essential cellular processes such as growth, differentiation, and programmed cell death. WNT7B is particularly important in embryonic development, bone formation, and blood vessel development. Disruptions in WNT7B signaling have been associated with conditions such as cancer, fibrosis, and developmental disorders.

WSCD1 (WSC Domain Containing 1) is a gene with limited characterization in humans, but it is believed to play a role in cellular responses to environmental stress. Although its precise function is not fully understood, WSCD1 may be involved in mechanisms that support cellular adaptation and survival under stress-related conditions.

XKR6 (XK Related 6) is a gene that encodes a protein from the XK family, which may be involved in transmembrane transport. While its precise function is not yet fully understood, XKR6 might play a role in cellular processes important to human health.

XXYLT1 (Xyloside Xylosyltransferase 1) is a gene that encodes an enzyme responsible for modifying proteins by adding xylose sugars to proteoglycans. This modification is essential for building glycosaminoglycan chains, which support cell signaling, adhesion, and movement within the extracellular matrix. Changes in XXYLT1 can affect these processes and have been linked to developmental disorders.

ZMYM6 (Zinc Finger MYM-Type Containing 6) is a gene that encodes a zinc finger protein potentially involved in transcriptional regulation and chromatin remodeling. It may play a role in controlling gene expression and has been studied in connection with blood-related cancers. Although its precise function in normal and disease conditions remains under investigation, ZMYM6 is considered important for genomic regulation processes.

ZNF816 (Zinc Finger Protein 816) is a gene that encodes a member of the zinc finger protein family, known for their roles in DNA binding and gene regulation. While the specific function of ZNF816 is not fully understood, zinc finger proteins are key regulators of gene expression, impacting development, cell differentiation, and potential disease pathways such as cancer and genetic disorders.