KCNK9 (Potassium Two Pore Domain Channel Subfamily K Member 9): KCNK9 encodes a two-pore-domain potassium channel, which is part of the potassium channel family. These channels help regulate the resting membrane potential and control neuronal excitability. Mutations in KCNK9 are linked to Birk-Barel mental retardation dysmorphism syndrome, underscoring its important role in neural development and function.

KCNK9

CETP (Cholesteryl Ester Transfer Protein): CETP is a protein that plays a key role in lipid metabolism by facilitating the transfer of cholesteryl esters and triglycerides between lipoproteins. It influences the composition of HDL (high-density lipoprotein) and LDL (low-density lipoprotein), making it important in cardiovascular health. CETP inhibitors have been studied as potential treatments for atherosclerosis because of their ability to increase HDL cholesterol levels.

CETP

BLMH (Bleomycin Hydrolase): BLMH is an enzyme that plays a crucial role in metabolizing and detoxifying the chemotherapy drug bleomycin. Bleomycin works by causing DNA damage in cancer cells but can also cause lung toxicity as a side effect. BLMH helps break down bleomycin into harmless compounds, lowering this risk. Understanding BLMH’s function is important for improving cancer treatment and managing side effects, especially in patients receiving bleomycin-based therapies. Researchers continue to explore ways to enhance the safety and efficacy of these treatments.

BLMH

PKNOX1 (PBX/Knotted 1 Homeobox 1): PKNOX1 is a transcription factor involved in regulating gene expression during development and cellular differentiation. It plays a role in embryogenesis and may influence hematopoietic cell development. Dysregulation of PKNOX1 can contribute to developmental abnormalities.

PKNOX1

CANT1 (Calcium Activated Nucleotidase 1): CANT1 is a gene that encodes an enzyme involved in the hydrolysis of UDP, a nucleotide important for glycosaminoglycan synthesis. Mutations in CANT1 are linked to skeletal disorders such as Desbuquois dysplasia, emphasizing its role in bone development and cartilage formation.

CANT1

NSUN3 (NOP2/Sun RNA Methyltransferase Family Member 3) is a gene that encodes an RNA methyltransferase involved in modifying mitochondrial tRNAs. This modification is crucial for proper mitochondrial protein synthesis and function. Mutations in NSUN3 have been associated with mitochondrial diseases.

NSUN3

HIVEP2 (Human Immunodeficiency Virus Type I Enhancer Binding Protein 2): HIVEP2 is a gene involved in transcriptional regulation. It encodes a protein that binds to DNA and modulates gene expression. HIVEP2 may play a key role in regulating specific genes, with potential effects on development and immune system function.

HIVEP2

NRP2 (Neuropilin 2): NRP2 is a receptor involved in angiogenesis and lymphangiogenesis as well as neuronal regulation. It binds to vascular endothelial growth factors and semaphorins, influencing the development of blood vessels and nerves. NRP2 plays a role in carcinogenesis, particularly in tumor angiogenesis and metastasis, as well as in developmental processes....

NRP2

IREB2 (Iron Responsive Element Binding Protein 2): IREB2 is a gene that plays a key role in iron metabolism by regulating genes involved in iron storage and transport. It helps maintain iron balance in the body by binding to iron-responsive elements (IREs) in the mRNA of these genes, controlling their stability and translation. Proper function of IREB2 is essential to prevent iron-related health issues like anemia or iron overload disorders such as hemochromatosis. Studying IREB2 is important for understanding iron metabolism and its links to conditions including neurodegenerative diseases.

IREB2

SLC17A1 (Solute Carrier Family 17 Member 1): SLC17A1 encodes a vesicular glutamate transporter that is responsible for packaging and releasing glutamate, a key neurotransmitter, into synaptic vesicles. This protein plays a vital role in neuronal communication and synaptic transmission.

SLC17A1

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

ZCCHC7

HNF4G (Hepatocyte Nuclear Factor 4 Gamma): HNF4G is a transcription factor that plays a key role in liver development and function. It regulates genes involved in glucose and lipid metabolism and contributes to the development of the pancreas and kidneys. Dysregulation of HNF4G can affect metabolic processes and has been linked to diabetes and liver diseases.

HNF4G

LAMA5 (Laminin Subunit Alpha 5): LAMA5 is a gene that encodes a protein belonging to the laminin family, which is essential for the structure and function of basement membranes in various tissues. Laminins contribute to cell adhesion, differentiation, migration, and signaling. LAMA5 plays an important role in vascular and neural development and has been linked to pathological conditions like cancer metastasis and fibrosis, where basement membrane integrity is compromised.

LAMA5

SEPHS1 (Selenophosphate Synthetase 1) SEPHS1 is a gene that encodes an enzyme essential for the biosynthesis of selenoproteins, which contain the amino acid selenocysteine. Predominantly located in the cytoplasm, SEPHS1 plays a key role in selenium metabolism by producing selenophosphate, the activated form of selenium required for selenocysteine incorporation into proteins. Through this activity, SEPHS1 supports the proper synthesis of selenoproteins, which are important for various cellular processes and overall cellular health.

SEPHS1

CHRNA4 (Cholinergic Receptor Nicotinic Alpha 4 Subunit) is a gene that encodes a subunit of the nicotinic acetylcholine receptor, which plays a key role in neurotransmission within the nervous system. This receptor is important for modulating neuronal excitability and synaptic communication. Mutations in CHRNA4 have been associated with certain forms of epilepsy and other neurological disorders, highlighting its critical function in brain activity.


CHRNA4

NOX4 (NADPH oxidase 4) is an enzyme from the NADPH oxidase family that produces reactive oxygen species (ROS) within cells. Unlike other family members, NOX4 is continuously active under normal conditions. It is mainly found in the endoplasmic reticulum and plasma membrane, where it transfers electrons from NADPH to oxygen, generating superoxide radicals. The ROS produced by NOX4 act as signaling molecules involved in cell growth, differentiation, and programmed cell death, among other physiological processes.

NOX4

MTDH (Metadherin), also known as AEG-1, is a multifunctional protein involved in key cellular processes such as cell adhesion, migration, and cancer development. It plays a significant role in tumor growth, angiogenesis, and metastasis, acting as an oncogene. Due to its involvement in promoting chemoresistance and its link to poor clinical outcomes, MTDH is considered an important target for cancer therapy.

MTDH

MOXD1 (Monooxygenase DBH-Like 1): MOXD1 is a gene involved in oxidative reactions within cells. While its precise functions and implications for human health are still being studied, MOXD1 is thought to play a role in the metabolism of certain compounds.

MOXD1

MAGI3 (Membrane Associated Guanylate Kinase, WW, and PDZ Domain Containing 3): MAGI3 is a scaffolding protein that plays a key role in assembling multiprotein complexes at cell junctions and in signal transduction pathways. It is involved in cellular processes such as epithelial cell polarity and may contribute to cancer development, particularly through its roles in cell-cell adhesion and signaling.

MAGI3

PRLR (Prolactin Receptor): PRLR is a receptor that binds to the hormone prolactin, which is involved in milk production, reproductive functions, and immune regulation. Upon prolactin binding, PRLR activates signaling pathways that regulate cell growth, development, and differentiation. Dysregulation of PRLR signaling has been linked to breast and other cancers, emphasizing its role in cellular proliferation and its potential as a therapeutic target.

PRLR

GNG11 (G Protein Subunit Gamma 11): GNG11 (G Protein Subunit Gamma 11) is a gamma subunit of heterotrimeric G proteins, which are key players in intracellular signaling pathways triggered by G protein-coupled receptors (GPCRs). GNG11 helps modulate signal transduction across cell membranes, influencing various physiological processes such as sensory perception, immune response, and cell growth. Its function is essential for transmitting signals from outside the cell to the interior, driving appropriate cellular responses.

GNG11

SLC44A2 (Solute Carrier Family 44 Member 2): SLC44A2 is a gene involved in choline transport and plays a role in modulating immune responses and inflammation. It has been linked to venous thromboembolism risk and contributes to neutrophil migration and activation. Research into SLC44A2 helps clarify its impact on thrombotic disorders and immune regulation, highlighting potential targets for treating inflammatory and thrombotic diseases.

SLC44A2

CAMK1D (Calcium/Calmodulin Dependent Protein Kinase ID): CAMK1D is a member of the calcium/calmodulin-dependent protein kinase family, involved in mediating cellular responses to calcium signals. It plays a role in regulating gene expression, the cell cycle, and metabolism. CAMK1D has been linked to diabetes and cardiovascular diseases, highlighting its importance in metabolic regulation and cellular signaling.

CAMK1D

TNFRSF13B (Tumor Necrosis Factor Receptor Superfamily Member 13B): TNFRSF13B, also known as TACI, is a receptor for the cytokines BAFF and APRIL. Both play key roles in B cell development and function. Mutations in TNFRSF13B have been linked to common variable immunodeficiency (CVID) and selective IgA deficiency, highlighting its importance in humoral immunity. Research on TNFRSF13B focuses on understanding its role in immune dysregulation and autoimmune diseases.

TNFRSF13B

CCDC138 (Coiled-Coil Domain Containing 138): CCDC138 is a protein that is less well characterized but is potentially involved in cellular structure due to its coiled-coil domain. These domains often play a role in protein-protein interactions and cytoskeletal organization. Further research is needed to clarify its specific functions and its relevance to health and disease.

CCDC138

IL33 (Interleukin 33): IL33 is a cytokine that belongs to the IL-1 family and functions as an alarm signal released by cells experiencing stress or injury. It binds to the ST2 receptor, initiating inflammatory responses, and plays a crucial role in conditions such as allergies, asthma, and other inflammatory diseases. Research on IL33 investigates its dual function in both promoting inflammation and offering protection, with potential implications for therapies targeting chronic inflammation and immune system dysregulation.

IL33

GNMT (Glycine N-Methyltransferase) is a key enzyme involved in methionine metabolism and liver detoxification. It helps regulate homocysteine levels by converting excess methionine into sarcosine, preventing harmful methionine buildup and supporting liver health. Dysfunction of GNMT is linked to liver conditions such as fatty liver disease and liver cancer. Ongoing research emphasizes GNMT’s protective role against liver toxicity and its potential as a marker for evaluating liver health.

GNMT

RMI2 (RecQ Mediated Genome Instability 2): RMI2 is a protein that plays a vital role as part of a complex involved in maintaining genomic stability. It is essential for repairing DNA double-strand breaks and resolving DNA recombination structures. Proper function of RMI2 helps prevent genomic instability, which is a critical factor in cancer development and progression.

RMI2

ZNF365 (Zinc Finger Protein 365): ZNF365 is a protein that belongs to the zinc finger family, known for its role in binding DNA and regulating gene expression. It is involved in DNA damage response and repair, helping to maintain genomic stability. Variants in ZNF365 have been linked to increased risk for diseases such as breast cancer and Crohn’s disease, underscoring its importance in cellular defense and disease susceptibility.

ZNF365

PTER (Phosphotriesterase-related protein): PTER is a protein that plays a crucial role in cellular detoxification and regulating metabolism. As part of the phosphotriesterase-related protein family, PTER helps break down chemical compounds, including organophosphate pesticides and nerve agents. Its enzymatic function protects cells from chemical damage and is also involved in cellular signaling and metabolic processes. Dysregulation of PTER expression or activity can increase vulnerability to chemical toxicity and metabolic imbalances.

PTER

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

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

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

RASEF (RAS And EF-Hand Domain Containing): RASEF is a gene that encodes a protein with both RAS and EF-hand domains, suggesting a role in signal transduction and calcium binding. Although its specific functions are still under investigation, RASEF may be involved in cellular processes such as cell growth and differentiation.

RASEF

AADAT (aminoadipate aminotransferase) is an enzyme that plays a key role in lysine breakdown within the body. Located mainly in the mitochondria, it participates in the alpha-aminoadipic semialdehyde (α-AASA) pathway, converting α-AASA to alpha-aminoadipate (AAA) — a critical step in lysine degradation. This process helps regulate lysine levels and produces intermediates used in other metabolic pathways.

AADAT

CD101 (CD101 Molecule): CD101 is a cell surface glycoprotein involved in immune regulation. It plays a role in both activation and suppression of immune cells, especially in autoimmune diseases and immune responses. Its expression on T cells and other immune cells is important for modulating the immune system’s activity.

CD101

AKNA (AT-Hook Transcription Factor) is a gene that encodes a transcription factor involved in regulating immune function, particularly in lymphoid cell development. It helps control the expression of genes related to cell growth and differentiation. Dysregulation of AKNA has been linked to autoimmune conditions and lymphomas, highlighting its role in immune regulation and cancer.

AKNA

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

XKR9 (X-Kell Blood Group Precursor-Related Family Member 9) is a gene that belongs to the X-Kell blood group precursor-related family. While its precise functions remain unclear, ongoing research is investigating its potential roles in cell membrane dynamics and physiological processes.

XKR9

DIO3, or Type 3 Deiodinase, is a crucial enzyme that helps regulate thyroid hormone activity in the body. Primarily located in tissues such as the liver, brain, and placenta, DIO3 manages thyroid hormone levels by converting active hormones into inactive forms. This process helps fine-tune hormone signaling in specific tissues, ensuring proper metabolic control and maintaining balanced thyroid function.

DIO3

CYP19A1, also known as aromatase, is an enzyme that facilitates the conversion of androgens (such as testosterone) into estrogens (such as estradiol). This enzyme plays a key role in estrogen biosynthesis, which is essential for sexual development, reproduction, bone metabolism, and cardiovascular health. CYP19A1 is expressed in multiple tissues, including the ovaries, testes, placenta, adipose tissue, and brain. In females, it is primarily responsible for producing estrogen in the ovaries by converting androgens from the adrenal glands.

CYP19A1

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

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



PAPPA

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

CCDC167

SIRT1 (Sirtuin 1): SIRT1 is a protein that belongs to the sirtuin family, which regulates key cellular processes through protein deacetylation. SIRT1 is especially important for its roles in promoting longevity and managing aging. It influences gene expression, supports DNA repair, and helps cells respond to stress, making it a vital factor in aging and age-related health conditions.

SIRT1

PPM1F (Protein Phosphatase, Mg2+/Mn2+ Dependent 1F): PPM1F is a gene that encodes a protein phosphatase involved in the dephosphorylation of target proteins. This process is essential for regulating cellular functions such as signal transduction and cell cycle progression. PPM1F likely plays a role in fine-tuning these critical cellular activities.

PPM1F

DKK1 (Dickkopf-1) is a secreted protein that functions as an inhibitor of the Wnt signaling pathway, which is key in regulating cell growth, development, and bone formation. By blocking Wnt interactions with its receptors, DKK1 influences processes such as cell differentiation, proliferation, and bone density. Its activity is linked to conditions like osteoporosis and several cancers, making it a potential target for therapeutic strategies.

DKK1

SRBD1 (S1 RNA Binding Domain 1) is a gene that encodes an RNA-binding protein involved in post-transcriptional regulation. These proteins play key roles in processes such as mRNA splicing, transport, and stability. Although the exact function of SRBD1 is still under study, it may help regulate gene expression at the RNA level.

SRBD1

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

ISL1

FBXO8 (F-Box Protein 8): FBXO8 is a member of the F-box protein family, which plays a key role in the ubiquitin-proteasome system — the body’s way of regulating protein degradation and turnover. FBXO8 functions by helping to identify specific proteins for breakdown, thereby influencing important cellular activities like the cell cycle, signal transduction, and immune response. While its exact targets and roles are still being studied, FBXO8’s involvement in protein degradation points to its significance in maintaining cellular balance and its potential connection to diseases involving protein misfolding or aggregation, such as neurodegenerative disorders.

FBXO8

CLMP (CXADR Like Membrane Protein): CLMP is a protein involved in cell adhesion, playing a key role in maintaining the integrity of tight junctions in epithelial cells. It is essential for the proper development of the gastrointestinal tract, and mutations in CLMP have been linked to congenital short bowel syndrome, a rare and severe developmental disorder.

CLMP

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

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

FAR1

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

COPB2 (Coatomer Protein Complex Subunit Beta 2): COPB2 is a gene that encodes a protein involved in the coatomer complex, which plays a key role in vesicle formation and transport within cells. It is essential for the movement of proteins between the endoplasmic reticulum and the Golgi apparatus.

COPB2

KEL (Kell Blood Group): KEL is a gene associated with blood group antigens and plays a key role in blood transfusion compatibility. It influences antigenic markers on the surface of red blood cells, affecting transfusion reactions and compatibility testing.

SLC26A8 (Solute Carrier Family 26 Member 8) is a gene that encodes a transporter protein primarily expressed in the testes. It plays a key role in anion transport and is essential for sperm motility and male fertility, contributing to proper sperm function and reproductive health.


SLC26A8

MMUT (Methylmalonyl-CoA Mutase) is a gene that encodes a mitochondrial enzyme essential for energy metabolism. It catalyzes the conversion of methylmalonyl-CoA to succinyl-CoA, a key step in the breakdown of certain amino acids and fatty acids. This reaction supports the citric acid cycle and overall cellular energy production. Mutations in MMUT can lead to methylmalonic acidemia (MMA), a rare metabolic disorder marked by toxic buildup of methylmalonic acid in the body.

MMUT

GAL (Galactose Alpha-1,3-Galactosyltransferase): GAL is an enzyme responsible for producing the alpha-gal epitope, a specific carbohydrate antigen. This enzyme plays a key role in immune response and xenotransplantation, as the presence of alpha-gal can trigger immune rejection. Humans lack this enzyme, which leads to the formation of anti-Gal antibodies.

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

SUGCT (Succinyl-CoA:Glutarate-CoA Transferase): SUGCT is an enzyme that plays a key role in the metabolism of glutarate, contributing to the tricarboxylic acid (TCA) cycle. It is essential for energy production and amino acid metabolism. Dysfunction in SUGCT can result in glutaric aciduria type III, a metabolic disorder that impacts energy production.

SUGCT

TRPM8 (Transient Receptor Potential Cation Channel Subfamily M Member 8): TRPM8 is a gene that encodes a calcium channel sensitive to cold temperatures. It is primarily expressed in sensory neurons and plays a key role in the perception of cold and the modulation of pain. Activation of TRPM8 by cold or certain chemicals triggers the sensation of cold.

TRPM8

DCDC2B (Doublecortin Domain Containing 2B) is a protein that belongs to the doublecortin family, known for its role in brain development. Proteins in this family contain doublecortin domains that bind to microtubules, helping guide neuronal migration and proper formation of the cerebral cortex. Proper function of DCDC2B is essential for normal brain development, and changes in this protein may be associated with neurological disorders and developmental issues.

DCDC2B

rs6553050: rs6553050 is a genetic marker known as a single nucleotide polymorphism (SNP) that occurs in the human genome. It is studied to identify variations that may be associated with specific traits or health conditions. While its exact effects are still being investigated, rs6553050 may influence genetic predispositions and responses to medications.

rs6553050

LY6K (Lymphocyte Antigen 6 Complex, Locus K): LY6K is a gene that encodes a protein belonging to the LY6/uPAR (lymphocyte antigen 6/urokinase-type plasminogen activator receptor) family. While its precise function is still under investigation, LY6K may play a role in immune responses and cell signaling.

LY6K

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

SOAT2 (Sterol O-Acyltransferase 2): SOAT2 is an enzyme that reflects a key step in lipid metabolism, particularly in the esterification of cholesterol. It plays a critical role in regulating cellular cholesterol levels by converting free cholesterol into cholesterol esters, which are either stored in lipid droplets or transported via lipoproteins. SOAT2 is mainly expressed in tissues involved in lipid metabolism, including the liver, intestine, and macrophages. Its activity is tightly regulated and responsive to cholesterol levels, helping prevent cholesterol toxicity and maintain lipid balance.

SOAT2

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

B4GALT6

DNAJB4 (DnaJ Heat Shock Protein Family (Hsp40) Member B4) is a co-chaperone protein that supports the proper folding, degradation, and assembly of other proteins in the cell. It plays a key role in managing cellular stress responses, especially during heat shock, helping to maintain cellular balance and protect cells from damage caused by stress.

DNAJB4

ATP2B4 is a gene that encodes a calcium pump responsible for removing calcium ions from cells. This pump plays a vital role in maintaining intracellular calcium balance, which is essential for muscle contraction, cell signaling, and nerve function. Proper regulation of ATP2B4 is important for cardiovascular health, and its dysfunction has been linked to heart-related diseases.

ATP2B4

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

LRRC7 (Leucine Rich Repeat Containing 7): LRRC7 is a gene that encodes a protein involved in synaptic functions in the brain. It is particularly associated with dendritic spines, which are vital for synaptic transmission and plasticity. Alterations in LRRC7 have been linked to neurological conditions, highlighting its role in brain development and function.

LRRC7

MTCH2 (Mitochondrial Carrier Homolog 2): MTCH2 is a gene that encodes a protein involved in mitochondrial function and energy metabolism. It is believed to play a role in mitochondrial transport and metabolic processes. Although its precise functions are still under investigation, MTCH2 may affect cellular energy balance and metabolic health.

MTCH2

NT5C2 (5'-Nucleotidase, Cytosolic II): NT5C2 is an enzyme that helps regulate nucleotide levels in cells, particularly in purine metabolism. It has been associated with chemotherapy resistance in certain leukemias and may play a role in purine metabolism disorders.

NT5C2

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

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

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

UNC119B (UNC-119 Homolog B) is a gene involved in the transport of proteins to cilia—specialized cellular structures essential for signaling and sensory functions. It plays a key role in the development and maintenance of photoreceptor cells in the retina. Disruption of UNC119B function can impair ciliary activity and may contribute to retinal disorders and vision loss.

UNC119B

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

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

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

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

WNK1

ENOX1 (Ecto-NOX Disulfide-Thiol Exchanger 1) is a protein that facilitates electron transfer across the cell membrane, contributing to cellular redox balance. It is linked to the regulation of cell growth and the aging process, though its exact role in human physiology and disease remains not fully defined.

ENOX1

BTBD7 (BTB Domain Containing 7) is a protein involved in regulating epithelial-mesenchymal transition (EMT), a vital process in embryonic development, tissue repair, and cancer spread. It helps control cell shape and movement by influencing the cell’s internal structure. Dysregulation of BTBD7 is associated with fibrosis and tumor progression, highlighting its role in tissue remodeling and its potential as a therapeutic target in fibrotic diseases and metastatic cancer.


BTBD7

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

IGFBP3 (Insulin-Like Growth Factor Binding Protein 3) is a protein that binds to insulin-like growth factors (IGFs), controlling their availability and activity in the body. This regulation influences cell growth, development, and metabolism. IGFBP3 is closely studied in cancer research, as it can either suppress or promote IGF effects depending on the cellular environment, making it a significant factor in tumor growth and potential therapeutic approaches.

IGFBP3

EGFLAM (EGF-Like, Fibronectin Type III and Laminin G Domain Containing): EGFLAM is a gene that encodes a protein featuring domains commonly found in extracellular matrix proteins. These domains suggest roles in cell adhesion, signaling, and tissue development. While the precise functions of EGFLAM are still being studied, it is thought to be important in supporting cellular communication and structural organization.

EGFLAM

ERI1 (Exoribonuclease 1): ERI1 is a crucial enzyme involved in RNA interference and the regulation of small RNA stability. It plays an essential role in degrading RNA duplexes and resolving RNA-induced silencing complexes (RISCs), which are key to gene silencing. ERI1’s function influences gene expression and cellular defense against viruses. Research on ERI1 investigates its role in post-transcriptional regulation and its potential importance in antiviral responses and cancer.

ERI1

SRD5A2, or 5-alpha-reductase 2, is an enzyme that facilitates the conversion of testosterone into dihydrotestosterone (DHT), a more potent androgen. It is primarily expressed in androgen-sensitive tissues such as the prostate gland, hair follicles, and external genitalia. SRD5A2 plays a key role in androgen metabolism and the regulation of androgen signaling. Testosterone, produced mainly in the testes, adrenal glands, and ovaries, serves as the precursor for DHT. By reducing the 4,5 double bond in the A ring of testosterone, SRD5A2 increases DHT’s binding affinity to the androgen receptor (AR).

SRD5A2

FOXK1 (Forkhead Box K1) is a transcription factor in the forkhead box (FOX) family, defined by a distinctive DNA-binding domain known as the forkhead box. FOXK1 plays a crucial role in regulating gene expression related to cell growth, proliferation, differentiation, and longevity. It is especially significant in muscle development and regeneration, as well as in controlling metabolic functions. Because of its role in these vital processes, FOXK1 is also studied for its involvement in various diseases, including cancer.

FOXK1

SPG7 (Spastic Paraplegia 7, Paraplegin): SPG7 is a mitochondrial protein involved in the maintenance and function of mitochondria, particularly in ATPase assembly. It plays a crucial role in neural and mitochondrial health. Mutations in SPG7 are a common cause of hereditary spastic paraplegia, a neurodegenerative disorder characterized by progressive stiffness and weakness in the lower limbs.

SPG7

TFAP2B (Transcription Factor AP-2 Beta): TFAP2B is a gene that encodes a transcription factor involved in regulating gene expression during embryonic development and differentiation. Mutations in TFAP2B have been linked to developmental disorders and are also associated with conditions such as obesity and diabetes.

TFAP2B

GDPD5 (Glycerophosphodiester Phosphodiesterase Domain Containing 5) is a gene involved in lipid metabolism, specifically in breaking down glycerophosphodiesters into glycerol phosphate and alcohol. This function supports membrane component turnover and regulates intracellular signaling. GDPD5 plays a role in lipid signaling pathways, with potential implications for metabolic and cardiovascular health.

GDPD5

CARD9 (Caspase Recruitment Domain Family Member 9): CARD9 is a gene that plays a crucial role in innate immune signaling. It encodes a protein with a caspase recruitment domain (CARD) and is involved in activating immune cells and producing cytokines in response to fungal pathogens. CARD9 is essential for mounting an effective immune response against fungal infections.

CARD9

TDRD15 (Tudor Domain Containing 15): TDRD15 is a protein that includes a Tudor domain, which is known for binding to methylated proteins and nucleic acids. Although its exact functions and roles in cellular processes are still under study, TDRD15 is thought to play a significant role in these molecular interactions.

TDRD15

H2BC1 (Histone H2B type 1-C/E/F/G/I) is a gene that encodes a protein in the histone H2B family, which is essential for packaging DNA into chromatin within eukaryotic cell nuclei. Histones such as H2B play a crucial role in regulating gene expression by controlling DNA access to transcription factors and related machinery. Specifically, H2BC1 helps form the nucleosome core, where H2B proteins combine with histones H2A, H3, and H4 to create an octameric complex around which DNA is wrapped.

H2BC1

G6PC2 (Glucose-6-Phosphatase Catalytic Subunit 2): G6PC2 is an enzyme involved in glucose metabolism that catalyzes the hydrolysis of glucose-6-phosphate into glucose. It plays a crucial role in regulating blood glucose levels, significantly contributing to glucose homeostasis and overall metabolic health.

G6PC2

GRM1 (Glutamate Receptor, Metabotropic 1): GRM1 is a receptor for glutamate, the primary excitatory neurotransmitter in the nervous system. It plays a key role in regulating synaptic plasticity, learning, and memory. GRM1 is involved in multiple neural pathways and has been associated with neurological and psychiatric disorders such as epilepsy, schizophrenia, and neurodegenerative diseases. Its function in neurotransmission and brain activity makes it a promising target for therapeutic interventions in these conditions.

GRM1

TNXB (Tenascin-XB) is a member of the tenascin family of extracellular matrix proteins and plays a key role in tissue development, organization, and maintenance. It is primarily found in connective tissues, contributing to the structural integrity and elasticity of the extracellular matrix (ECM). TNXB supports cell adhesion, migration, and proliferation, influencing processes such as wound healing, tissue remodeling, and organ formation. Its expression is especially high in skin, tendons, and blood vessels, where it helps regulate the mechanical strength and resilience of these tissues.

TNXB

SLC8A1 (Sodium/Calcium Exchanger 1): SLC8A1 is a membrane transport protein that regulates the balance between sodium (Na) and calcium (Ca) ions in cardiac and skeletal muscle cells, as well as neurons. This exchanger plays a crucial role in maintaining calcium homeostasis by removing calcium from cells in exchange for sodium. Its activity is essential for muscle relaxation, preventing calcium overload, supporting proper heart and muscle function, and influencing neuronal signaling and excitability.

SLC8A1

The home test was straightforward with easy to follow instructions. The test result was detailed and clear in its presentation. Also had the opportunity to ask questions about the test result.

We looked at a lot of companies offering the same services but made the decision to go forward with get tested because the labs are based here in the USA. The process has been very straight forward.

There are other providers out there, I have tried 3. Gettested was the fastest and the customer service was the best. I even received my test on the day of purchase delivered by a motorbike courier.

PPM1F

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