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VKORC1 (Vitamin K Epoxide Reductase Complex Subunit 1): VKORC1 is an enzyme involved in the recycling of vitamin K, which is essential for blood clotting. Genetic variations in VKORC1 influence sensitivity to vitamin K antagonists like warfarin, affecting dosage requirements and the risk of bleeding. Testing VKORC1 can help personalize anticoagulant therapy for safer and more effective treatment.

VKORC1

CYP2C19 (Cytochrome P450 Family 2 Subfamily C Member 19): CYP2C19 is an enzyme involved in metabolizing medications such as proton pump inhibitors, antidepressants, and clopidogrel. Genetic variations affect enzyme activity, influencing drug effectiveness and the risk of side effects. Testing CYP2C19 can help optimize medication dosing and treatment choices.

CYP2C19

CES1 (Carboxylesterase 1): CES1 is an enzyme involved in the metabolism of various drugs, including clopidogrel, methylphenidate, and certain antiviral and chemotherapy agents. Genetic variations in CES1 can affect drug activation and breakdown, influencing both therapeutic effects and the risk of side effects. Testing CES1 can help optimize drug dosing and improve treatment outcomes.

CES1

Meat from young sheep, commonly consumed in various cuisines. Can cause allergic reactions in some individuals.

Lamb

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.

SLCO1B1

CYP3A4 (Cytochrome P450 Family 3 Subfamily A Member 4): CYP3A4 is one of the most important enzymes in drug metabolism, involved in breaking down a wide range of medications, including statins, immunosuppressants, benzodiazepines, and certain chemotherapy drugs. Genetic variations in CYP3A4 can influence drug clearance, affecting both efficacy and the risk of side effects. Testing CYP3A4 can help guide medication dosing for safer and more effective treatment.

CYP3A4

CYP2B6 (Cytochrome P450 Family 2 Subfamily B Member 6): CYP2B6 is an enzyme that plays a role in the metabolism of various drugs, including bupropion, efavirenz, methadone, and certain anesthetics. Genetic variations in CYP2B6 affect enzyme activity, influencing drug breakdown, effectiveness, and the risk of side effects. Testing CYP2B6 can help optimize medication dosing and reduce the likelihood of adverse reactions.

CYP2B6

FAM171A1 (Family With Sequence Similarity 171 Member A1) is a protein-coding gene with limited current characterization. It is thought to play a role in cellular processes such as protein interactions and signal transduction, though its exact functions in human health and disease remain under investigation.

FAM171A1

WSCD1 (WSC Domain Containing 1) is a gene with limited characterization in humans, but it is thought to be involved in cellular responses to environmental stress. While its exact role is not fully understood, WSCD1 may contribute to mechanisms of cellular adaptation and survival under stress-related conditions.

WSCD1

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.

ATF7

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

FAM160A2 (Family with Sequence Similarity 160 Member A2) is a gene with currently limited characterized information. While its precise biological role remains unclear, ongoing research aims to uncover its function and potential significance in human health and disease.

FAM160A2

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.

BAIAP2L1

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

ATP1B2

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 present on the surface of cells in various tissues and plays a key role in mediating VIP signaling pathways.

VIPR2

FHIT (Fragile Histidine Triad Diadenosine Triphosphatase) is a tumor suppressor gene involved in purine metabolism. It plays a key role in maintaining genomic stability, and its loss or alteration has been associated with various cancers, highlighting its importance in preventing tumor development.

FHIT

WNT10A (Wnt Family Member 10A) is a gene that plays a key role in the Wnt signaling pathway, which is essential for regulating cell growth, development, and tissue formation. It is particularly important in the development of skin, hair, teeth, and bones. Variations or mutations in WNT10A have been linked to several developmental conditions affecting these structures.

WNT10A

DOK5 (Docking Protein 5) is a member of the DOK family of adaptor proteins, which act as substrates for receptor tyrosine kinases and help transmit signals inside cells. It plays important roles in pathways that control cell growth, differentiation, and survival. DOK5 is particularly involved in neuronal development and has been linked to insulin signaling, making it significant for both nervous system formation and metabolic regulation.

DOK5

C16ORF82 (Chromosome 16 Open Reading Frame 82), also known as FAM173B, is a gene that is still being studied to understand its function. Early research suggests it may be involved in mitochondrial processes, playing a role in cellular energy metabolism. Because of this mitochondrial link, it could be important in conditions related to mitochondrial dysfunction, though more research is needed to confirm its exact role.

C16ORF82

DGKB (Diacylglycerol Kinase Beta) is an enzyme that plays a key role in lipid signaling by converting diacylglycerol into phosphatidic acid. It is involved in important cellular processes such as insulin sensitivity and neurotransmitter signaling. Changes in DGKB function have been linked to metabolic disorders and are studied in relation to conditions like diabetes and obesity.

DGKB

WDR70 (WD Repeat Domain 70) is a gene that encodes a protein containing WD repeat domains, which help facilitate protein-protein interactions. This protein is involved in key cellular processes like cell cycle regulation and may also play a role in RNA processing. While its exact functions are still being studied, WDR70 is thought to contribute to cellular organization and overall cell function.

WDR70

SPPL3 (Signal Peptide Peptidase-Like 3) is an enzyme in the intramembrane-cleaving protease family that processes certain transmembrane proteins. By releasing intracellular domains from its substrates, SPPL3 influences cellular signaling and regulation. It plays a key role in immune system function, including B cell maturation, and has been linked to some autoimmune conditions. Studying SPPL3 helps reveal how intramembrane proteolysis impacts human health and disease.

SPPL3

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

SIPA1L3

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.

FN3KRP

ADAM10 (A Disintegrin and Metalloproteinase 10) is a protein that acts as a transmembrane protease, involved in regulating cell adhesion, migration, and signaling. It functions by cleaving the extracellular parts of various cell surface proteins, such as growth factors and receptors, influencing important pathways like Notch and cadherin signaling. ADAM10 plays key roles in tissue development, cell communication, and nervous system function.

ADAM10

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

XKR6

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.

ADAMTSL3

SPATA32 (Spermatogenesis Associated 32) is a gene mainly expressed in the testis and is thought to be involved in the process of spermatogenesis. While its precise role in male reproductive health and fertility is not yet fully understood, SPATA32 is considered important for research in reproductive biology and fertility.

SPATA32

SLC16A9 (Solute Carrier Family 16 Member 9) is a gene that encodes a protein belonging to the solute carrier family, which helps transport small molecules across cell membranes. While its exact substrates and functions are still being studied, SLC16A9 plays a role in cellular transport processes.

SLC16A9

DEF8 (Differentially Expressed in FDCP 8 Homolog) is a gene involved in endocytic trafficking and cellular signaling. It functions as a scaffold protein, helping coordinate interactions between signaling molecules and endosomes—key for proper receptor function and cell communication. Disruptions in DEF8 activity have been linked to cancer and immune-related conditions.

DEF8

ALCAM (Activated Leukocyte Cell Adhesion Molecule) is a protein that plays a key role in cell-to-cell adhesion, enabling cells to interact, migrate, and target specific locations in the body. It is involved in critical processes such as nerve development, immune regulation, and tissue repair. Dysregulation of ALCAM has been linked to cancer metastasis, autoimmune disorders, and other pathological conditions.

ALCAM

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 contribute to controlling gene expression and has been explored in relation to blood-related cancers. While its exact role in normal and disease states is still being investigated, ZMYM6 is considered relevant to genomic regulation processes.

ZMYM6

DPYD (Dihydropyrimidine Dehydrogenase): DPYD is an enzyme responsible for breaking down fluoropyrimidine drugs, such as 5-fluorouracil (5-FU) and capecitabine, commonly used in cancer treatment. Genetic variations in DPYD can lead to reduced enzyme activity, increasing the risk of severe toxicity, including bone marrow suppression and gastrointestinal side effects. Testing DPYD helps identify individuals who require dose adjustments or alternative treatments to improve safety and effectiveness.

DPYD

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 associated with Joubert syndrome — a rare genetic disorder marked by developmental delays, cerebellar malformations, and neurological impairments.

AHI1

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

FRMD4B

ADGRL2 (Adhesion G Protein-Coupled Receptor L2) is a protein that belongs to the adhesion-GPCR family, combining cell adhesion with G protein-coupled receptor signaling. It supports nervous system development, facilitates cell-to-cell communication, and has been linked to certain neurological conditions. Its dual function makes it an important focus in neurobiological research.




ADGRL2

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.

FDX1

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

PATJ

C11ORF21 (Chromosome 11 Open Reading Frame 21) is a gene with currently unclear or uncharacterized biological function. While identified through genomic studies, its specific role in cellular activity and potential associations with health or disease remain under investigation as part of ongoing research in human genetics.


C11ORF21

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 key role in various cellular processes such as signal transduction, muscle contraction, and neurotransmitter release. Mutations in ATP2B2 have been associated with hearing loss and vestibular disorders, highlighting its importance in maintaining calcium balance within sensory hair cells essential for hearing and balance.

ATP2B2

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



BTN2A2

ARPC1B (Actin Related Protein 2/3 Complex Subunit 1B) is a gene that encodes a component of the ARP2/3 complex, a key regulator of actin cytoskeleton organization and cell movement. It is essential for proper immune cell function and the body’s defense against infections. Mutations in ARPC1B can cause a rare immunodeficiency disorder, known as ARPC1B deficiency, which impairs immune response.




ARPC1B

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



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, allowing it to be more easily eliminated from the body. AS3MT plays a key role in arsenic metabolism and may influence an individual’s susceptibility to arsenic-related health effects.

AS3MT

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 critical role in development and has been linked to conditions such as ICF syndrome and various types of cancer.



DNMT3B

FGGY (FGGY Carbohydrate Kinase Domain Containing) is a gene that encodes a protein involved in carbohydrate metabolism. While its specific functions are not yet fully understood, proteins in this family typically play roles in energy production and may be linked to metabolic processes and disorders.



FGGY

HTR2C (5-Hydroxytryptamine Receptor 2C) is a serotonin receptor subtype involved in regulating mood, appetite, and behavior. It plays a key role in central nervous system (CNS) functions and is a target for some psychiatric medications. Variations or dysfunctions in HTR2C have been associated with mental health conditions like depression, anxiety, and schizophrenia, as well as metabolic disorders.

HTR2C

GAD2 (Glutamate Decarboxylase 2): GAD2 is crucial for the synthesis of gamma-aminobutyric acid (GABA), an important neurotransmitter in the brain. It plays a role in the regulation of neuronal excitability and has been implicated in disorders such as epilepsy and anxiety disorders.

GAD2

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 aiding the conversion of plasminogen to plasmin, an enzyme that breaks down fibrin and extracellular matrix components. Elevated PLAUR levels have been associated with tumor growth and metastasis, highlighting its role in cancer progression and potential as a therapeutic target.




PLAUR

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

SLC24A4

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

ZNF816

EIF4G3 (Eukaryotic Translation Initiation Factor 4 Gamma 3) is a gene that encodes a key component of the eIF4F complex, which is involved in the initiation of protein synthesis. It plays a vital role in recruiting ribosomes to mRNA, enabling 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 often altered.



EIF4G3

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.

ARSB

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.

CUBN


FPR1 (Formyl Peptide Receptor 1) is a receptor that plays a key role in the immune system by guiding neutrophils to sites of infection or inflammation. It detects formyl peptides, which act as signals indicating the presence of microbial invaders, helping the body mount an effective immune response.

FPR1

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



ATG12

SORCS3 (Sortilin-Related VPS10 Domain Containing Receptor 3) is a protein that belongs to the VPS10 domain-containing receptor family, involved in protein trafficking and sorting within cells. It plays a key role in the nervous system by regulating the movement of proteins important for synaptic function. Changes in SORCS3 activity have been associated with neurological conditions such as Alzheimer's disease and schizophrenia.


SORCS3

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

DIO1

SLC6A16 (Solute Carrier Family 6 Member 16) is a gene that encodes a transporter protein involved in the movement of amino acids and neurotransmitters within the nervous system. It plays a key role in maintaining neurotransmitter balance, and disruptions in its function may be linked to neurological conditions.


SLC6A16

SLC35F3 (Solute Carrier Family 35 Member F3) is a gene that encodes a transporter protein from the solute carrier (SLC) family, which is involved in moving molecules across cell membranes. While its exact function and substrates are still under investigation, SLC35F3 is believed to play a role in cellular transport and metabolic processes.

SLC35F3

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 control cell growth and differentiation, playing a key role in tissue regeneration and cell fate decisions.



FZD4

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



GABPB1

ARSA (Arylsulfatase A) is an enzyme that breaks down sulfatides — complex lipids present in many tissues, particularly in the nervous system. A deficiency in ARSA, often caused by genetic mutations, leads to the buildup of sulfatides and can result in Metachromatic Leukodystrophy (MLD), a rare disorder marked by progressive loss of nerve insulation (demyelination) and severe neurological decline.




ARSA

ESD (Esterase D) is a gene that encodes an enzyme involved in the breakdown of ester compounds within 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 in studying metabolic pathways and monitoring disease progression.

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

ADAMTS10

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.

DCSTAMP

C12ORF43 (Chromosome 12 Open Reading Frame 43) is a gene that encodes a protein with a still-unclear function. Although research is ongoing, this protein may be involved in important cellular processes such as metabolism, signal transduction, or protein interactions. Its exact role and impact on health are not yet fully understood, but changes in its expression could potentially influence disease development.



C12ORF43

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.

XXYLT1

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 affect RNA stability, function, and how genes are expressed. ADARB1 plays an important role in brain function and has been linked to the regulation of neural activity and neurological disorders.

ADARB1

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

ADCY6

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.

FOXP2

RYR1 (Ryanodine Receptor 1) is a gene that encodes a calcium channel protein critical for muscle contraction. Variants in RYR1 are linked to malignant hyperthermia, a rare but serious reaction to certain anesthetics. Identifying RYR1 mutations can help assess risk and guide safer anesthesia choices during surgery.

RYR1

AGPAT2 (1-acylglycerol-3-phosphate O-acyltransferase 2) is an essential 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 critical step in the Kennedy pathway for triacylglycerol production. AGPAT2 plays important 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.

AGPAT2

STEAP1B (STEAP Family Member 1B) is a protein belonging 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 numerous physiological functions. While its precise role in human health and disease is still under investigation, STEAP1B may have important implications for understanding iron-related metabolic pathways.

STEAP1B

Latex allergy is an immune response triggered by natural rubber latex, a material sourced 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.

Latex

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

JAML

ABHD2 (Abhydrolase Domain Containing 2) is a gene that encodes an enzyme belonging to the serine hydrolase family, involved in lipid metabolism and signaling. This enzyme acts on lipid molecules and plays important roles in processes like sperm capacitation, muscle contraction, and heat production. ABHD2’s function in lipid regulation makes it a key player in metabolism and a potential target for treating conditions related to fertility, obesity, and metabolic health.

ABHD2

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

ADCY5

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

APOC1

STAT6 (Signal Transducer And Activator Of Transcription 6) is a protein that plays a key role in immune signaling pathways, especially those triggered by cytokines like IL-4 and IL-13. It helps regulate allergic inflammation by promoting the development of Th2 cells, production of IgE antibodies, and growth of mast cells. Because of its involvement in allergic responses and asthma, STAT6 is an important target for therapies aimed at controlling immune reactions in allergic diseases.

STAT6

SLC39A8 (Solute Carrier Family 39 Member 8) is a gene that encodes a transporter protein responsible for the cellular uptake of important divalent metals like zinc and manganese. This protein helps maintain metal ion balance, which is essential for immune function, brain development, and other biological processes. Variations in SLC39A8 have been linked to several health conditions, including congenital disorders affecting glycosylation.


SLC39A8

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 moves to the cell nucleus upon binding to estrogen, where it influences cellular processes.

ESR1

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 associated with certain cancers.

CHD6

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

DDX58

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.

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

ERBIN

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.

BEND5

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 associated with breast cancer, where it may serve as a potential biomarker or therapeutic target in research and treatment.

ANKRD30A

AGBL1 (ATP/GTP-binding protein-like 1) is a protein that belongs to 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 essential for maintaining cellular homeostasis and coordinating responses to external signals. Dysregulation of AGBL1 has been linked to various diseases, including neurodegenerative disorders, cancer, and immune system dysfunction, highlighting its importance in cell function and disease.

AGBL1

DDI1 (DNA-Damage Inducible 1 Homolog 1) is a protein involved in key cellular processes such as DNA repair, cell cycle regulation, and the ubiquitin-proteasome system. It plays a critical role in responding to DNA damage by acting as a ubiquitin-dependent protease, helping degrade specific proteins to maintain cellular health. Due to its multifunctional roles, DDI1 is important for protecting cells from stress and may be linked to cancer and other diseases related to DNA damage and repair.

DDI1

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

DOCK3

FAM9A (Family with Sequence Similarity 9 Member A) is a protein-coding gene that belongs to a family of genes sharing sequence similarity. While its specific functions remain under study and are not yet fully understood, FAM9A is expressed in several tissues, including the brain, testis, and ovaries. This suggests it may play roles in important cellular processes within these organs. Genes in the FAM family often participate in cell signaling, transcription regulation, or protein interactions, though the exact functions of FAM9A continue to be researched.

FAM9A

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

EXTL2

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, underscoring its significance in cell biology and cancer research.

ADH1A (Alcohol Dehydrogenase 1A) is a gene that encodes an enzyme involved in the breakdown of alcohol in the liver. It catalyzes the conversion of ethanol to acetaldehyde, a key step in alcohol metabolism. Variations in ADH1A can influence how the body processes alcohol and may affect individual susceptibility to alcohol-related conditions.

ADH1A

FABP2 (Fatty Acid Binding Protein 2) is a protein involved in the intracellular transport of long-chain fatty acids and their acyl-CoA derivatives. It plays a key role in the absorption and metabolism of fatty acids within the intestine. Variations in FABP2 can impact lipid metabolism and are linked to metabolic conditions such as diabetes and obesity.

FABP2

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.

FOLH1

DOCK10 (Dedicator of Cytokinesis 10) is a gene involved in actin cytoskeleton remodeling, contributing to the activation and movement of immune cells, especially T-cells and B-cells. It plays a key role in regulating immune responses and may have implications in autoimmune conditions and immune system disorders.

DOCK10

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 thought to contribute to essential cellular transport processes involved in maintaining homeostasis and normal cell function.

SLC44A5

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.

RFC4

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