KCNK9 (Potassium Two Pore Domain Channel Subfamily K Member 9): KCNK9 encodes a two-pore-domain potassium channel that belongs to the potassium channel family. These channels play a key role in regulating the resting membrane potential and controlling neuronal excitability. Mutations in KCNK9 are associated with Birk-Barel mental retardation dysmorphism syndrome, highlighting its critical role in neural development and function.

KCNK9

CETP (Cholesteryl Ester Transfer Protein): CETP is a protein that plays a crucial role in lipid metabolism by facilitating the transfer of cholesteryl esters and triglycerides between lipoproteins. It affects the composition of HDL (high-density lipoprotein) and LDL (low-density lipoprotein), making it significant for cardiovascular health. CETP inhibitors have been researched as potential treatments for atherosclerosis due to their ability to raise 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 breakdown of UDP, a nucleotide crucial for glycosaminoglycan synthesis. Mutations in CANT1 are associated with skeletal disorders such as Desbuquois dysplasia, highlighting 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, potentially affecting development and immune system function.

HIVEP2

NRP2 (Neuropilin 2): NRP2 is a receptor that plays a key role in angiogenesis and lymphangiogenesis, as well as in neuronal guidance. It interacts with vascular endothelial growth factors and semaphorins, influencing the development of blood vessels and nerves. NRP2 is also involved in cancer progression, particularly in tumor angiogenesis and metastasis, and has important roles in developmental processes.

NRP2

IREB2 (Iron Responsive Element Binding Protein 2): IREB2 is a gene that plays a crucial 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 such as anemia or iron overload disorders like hemochromatosis. Studying IREB2 is important for understanding iron metabolism and its connections to conditions including neurodegenerative diseases.

IREB2

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

SLC17A1

ZCCHC7 (Zinc Finger CCHC-Type Containing 7): ZCCHC7 is part of the zinc finger protein family, recognized for their roles in DNA binding and gene regulation. While its precise function is not completely understood, ZCCHC7 is thought to be involved in processes such as transcriptional regulation, RNA processing, and DNA repair, affecting various cellular activities and possibly playing a role in disease mechanisms.

ZCCHC7

HNF4G (Hepatocyte Nuclear Factor 4 Gamma): HNF4G is a transcription factor that plays a crucial 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 impact metabolic processes and has been associated with 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) is a gene that encodes an enzyme essential for the biosynthesis of selenoproteins, which contain the amino acid selenocysteine. Mainly found in the cytoplasm, SEPHS1 plays a crucial role in selenium metabolism by producing selenophosphate, the activated form of selenium needed for incorporating selenocysteine into proteins. Through this function, SEPHS1 ensures the proper synthesis of selenoproteins, which are vital for various cellular processes and overall cell 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 regulating neuronal excitability and synaptic communication. Mutations in CHRNA4 have been linked to certain types of epilepsy and other neurological disorders, underscoring its essential role in brain function.

CHRNA4

NOX4 (NADPH oxidase 4) is an enzyme from the NADPH oxidase family that produces reactive oxygen species (ROS) inside cells. Unlike other members of this family, NOX4 remains continuously active under normal conditions. It is primarily located in the endoplasmic reticulum and plasma membrane, where it transfers electrons from NADPH to oxygen, producing superoxide radicals. The ROS generated by NOX4 function 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. Although its exact functions and effects on human health are still being researched, MOXD1 is believed 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 plays a role in milk production, reproductive functions, and immune regulation. When prolactin binds, PRLR activates signaling pathways that control cell growth, development, and differentiation. Dysregulation of PRLR signaling has been associated with breast and other cancers, highlighting 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 play a crucial role in intracellular signaling pathways activated by G protein-coupled receptors (GPCRs). GNG11 aids in modulating signal transduction across cell membranes, affecting various physiological functions such as sensory perception, immune response, and cell growth. Its role is vital for transmitting signals from outside the cell to the inside, enabling 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 the risk of venous thromboembolism and contributes to neutrophil migration and activation. Research on SLC44A2 helps clarify its effects 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 not well characterized but may be involved in cellular structure due to its coiled-coil domain. These domains typically play a role in protein-protein interactions and cytoskeletal organization. Additional research is necessary to clarify its specific functions and its significance 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 crucial 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 key 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 the DNA damage response and repair, helping to maintain genomic stability. Variants in ZNF365 have been linked to an increased risk for diseases such as breast cancer and Crohn’s disease, highlighting 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 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.

SLC24A4

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.

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 vital role in breaking down lysine in the body. Primarily found in the mitochondria, it is involved in the alpha-aminoadipic semialdehyde (α-AASA) pathway, where it converts α-AASA to alpha-aminoadipate (AAA) — an essential step in lysine degradation. This process helps regulate lysine levels and generates 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, particularly in autoimmune diseases and immune responses. Its expression on T cells and other immune cells is crucial 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, especially in lymphoid cell development. It helps manage the expression of genes related to cell growth and differentiation. Dysregulation of AKNA has been associated with autoimmune diseases and lymphomas, underscoring its role in immune regulation and cancer.

AKNA

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.

SLC16A9

XKR9 (X-Kell Blood Group Precursor-Related Family Member 9) is a gene that is part of the X-Kell blood group precursor-related family. Although its exact functions are not yet fully understood, ongoing research is exploring its possible roles in cell membrane dynamics and various 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 enables the conversion of androgens (such as testosterone) into estrogens (such as estradiol). This enzyme plays a crucial role in estrogen biosynthesis, which is vital for sexual development, reproduction, bone metabolism, and cardiovascular health. CYP19A1 is expressed in various tissues, including the ovaries, testes, placenta, adipose tissue, and brain. In females, it primarily produces estrogen in the ovaries by converting androgens from the adrenal glands.

CYP19A1

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.

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 containing a coiled-coil domain, a structural motif known for enabling protein-protein interactions. Although its exact biological functions are still under investigation, CCDC167 may be involved in important cellular processes that have yet to be fully defined.

CCDC167

SIRT1 (Sirtuin 1): SIRT1 is a protein that belongs to the sirtuin family and regulates key cellular processes through protein deacetylation. SIRT1 plays a crucial role in promoting longevity and managing aging. It affects gene expression, supports DNA repair, and helps cells respond to stress, making it a vital factor in aging and age-related health issues.

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 acts as an inhibitor of the Wnt signaling pathway, which plays a crucial role in regulating cell growth, development, and bone formation. By blocking Wnt interaction with its receptors, DKK1 affects processes such as cell differentiation, proliferation, and bone density. Its activity is associated with conditions like osteoporosis and various cancers, making it a potential target for therapeutic approaches.

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 essential tissues, including the heart, motor neurons, and sensory neurons. It plays a crucial role in guiding these cells during embryonic development and maintaining their function in adults. Mutations in ISL1 are associated with congenital heart defects and other developmental disorders.

ISL1

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

FBXO8

CLMP (CXADR Like Membrane Protein): CLMP is a protein involved in cell adhesion that plays a crucial 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 associated with 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, a crucial step in the production of wax esters and other complex lipids. These lipids contribute to the structure of cell membranes and help protect cells from environmental stress. FAR1’s role in lipid metabolism is associated with skin barrier function, lipid storage disorders, and potential uses in biofuel and industrial production.

FAR1

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.

SPATA32

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

COPB2

KEL (Kell Blood Group): KEL is a gene linked to blood group antigens and plays a crucial role in blood transfusion compatibility. It affects antigenic markers on the surface of red blood cells, influencing transfusion reactions and compatibility testing.

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

SLC26A8

MMUT (Methylmalonyl-CoA Mutase) is a gene that encodes a mitochondrial enzyme crucial for energy metabolism. It catalyzes the conversion of methylmalonyl-CoA to succinyl-CoA, an important step in breaking down certain amino acids and fatty acids. This reaction supports the citric acid cycle and overall cellular energy production. Mutations in MMUT can result in methylmalonic acidemia (MMA), a rare metabolic disorder characterized by a 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 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.

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 lead to glutaric aciduria type III, a metabolic disorder that affects 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 mainly expressed in sensory neurons and plays a crucial role in sensing cold and regulating pain. Activation of TRPM8 by cold or specific chemicals triggers the sensation of cold.

TRPM8

DCDC2B (Doublecortin Domain Containing 2B) is a protein that is part of the doublecortin family, recognized for its role in brain development. Proteins in this family have doublecortin domains that bind to microtubules, aiding in neuronal migration and the proper formation of the cerebral cortex. The proper function of DCDC2B is vital for normal brain development, and alterations in this protein may be linked to neurological disorders and developmental problems.

DCDC2B

rs6553050: rs6553050 is a genetic marker known as a single nucleotide polymorphism (SNP) found in the human genome. It is studied to identify variations that may be linked to specific traits or health conditions. Although its exact effects are still under investigation, rs6553050 may impact genetic predispositions and medication responses.

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. Although its exact function is still being studied, LY6K may be involved 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 regulate cell growth and differentiation, playing a key role in tissue regeneration and determining cell fate.

FZD4

SOAT2 (Sterol O-Acyltransferase 2): SOAT2 is an enzyme that represents a crucial step in lipid metabolism, especially in the esterification of cholesterol. It plays a vital role in regulating cellular cholesterol levels by converting free cholesterol into cholesterol esters, which are either stored in lipid droplets or transported through lipoproteins. SOAT2 is primarily expressed in tissues involved in lipid metabolism, such as the liver, intestine, and macrophages. Its activity is tightly controlled and responsive to cholesterol levels, helping to prevent cholesterol toxicity and maintain lipid balance.

SOAT2

B4GALT6 (Beta-1,4-galactosyltransferase 6) is an enzyme that plays a crucial role in the biosynthesis of glycosaminoglycans (GAGs) — complex carbohydrates found in proteoglycans. Primarily located in the Golgi apparatus, it 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 assists in the proper folding, degradation, and assembly of other proteins within the cell. It plays a crucial role in managing cellular stress responses, particularly during heat shock, helping to maintain cellular homeostasis and protect cells from stress-induced damage.

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, 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.

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 essential for synaptic transmission and plasticity. Changes in LRRC7 have been linked to neurological disorders, underscoring its importance 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 within cells, specifically in purine metabolism. It has been linked to chemotherapy resistance in certain types of leukemia and may contribute to disorders involving purine metabolism.

NT5C2

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.

XKR6

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.

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 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.

ADARB1

UNC119B (UNC-119 Homolog B) is a gene involved in transporting proteins to cilia—specialized cellular structures critical for signaling and sensory functions. It plays a crucial 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 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.

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 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.

SPPL3

WNK1 (WNK Lysine Deficient Protein Kinase 1) is a serine/threonine kinase that plays a crucial role in regulating electrolyte balance and blood pressure. It affects sodium and potassium transport in the kidneys, helping to maintain fluid balance and vascular function. Variants in WNK1 can disrupt this regulation, leading 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 associated with the regulation of cell growth and the aging process, although its precise role in human physiology and disease is not yet fully understood.

ENOX1

BTBD7 (BTB Domain Containing 7) is a protein involved in regulating epithelial-mesenchymal transition (EMT), a crucial process in embryonic development, tissue repair, and cancer metastasis. It helps control cell shape and movement by influencing the cell’s internal framework. Dysregulation of BTBD7 is linked to fibrosis and tumor progression, underscoring 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 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.

CYP2C19

IGFBP3 (Insulin-Like Growth Factor Binding Protein 3) is a protein that binds to insulin-like growth factors (IGFs), regulating their availability and activity in the body. This control affects cell growth, development, and metabolism. IGFBP3 is extensively studied in cancer research because it can either inhibit or enhance IGF effects depending on the cellular environment, making it a key factor in tumor growth and potential therapeutic strategies.

IGFBP3

EGFLAM (EGF-Like, Fibronectin Type III and Laminin G Domain Containing): EGFLAM is a gene that encodes a protein containing domains commonly found in extracellular matrix proteins. These domains imply functions in cell adhesion, signaling, and tissue development. Although the exact functions of EGFLAM are still under investigation, it is believed to play a key role 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

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DNAJB4

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