GCKR (Glucokinase Regulator): GCKR is a gene that encodes a protein responsible for regulating glucokinase, an enzyme essential in glucose metabolism. Variations in GCKR can affect glucose homeostasis and have been linked to diabetes and other metabolic disorders.

GCKR

KCTD9 (Potassium Channel Tetramerization Domain Containing 9) is a gene that encodes a protein involved in protein-protein interactions and the formation of protein complexes. It may contribute to the regulation of ion channels or other cellular processes through its role in complex assembly and signaling pathways.

KCTD9

SYCP2L (Synaptonemal Complex Protein 2-Like): SYCP2L is a protein involved in meiosis, playing a key role in the formation of the synaptonemal complex. This structure is essential for the pairing and recombination of homologous chromosomes. SYCP2L is important for understanding the mechanisms of genetic recombination and fertility, with potential implications in reproductive biology and related disorders.

SYCP2L

CYP4F11 (Cytochrome P450 Family 4 Subfamily F Member 11): CYP4F11 is an enzyme belonging to the cytochrome P450 family. It plays a key role in the oxidation of fatty acids and drug metabolism. CYP4F11’s function in lipid processing and drug detoxification is important for understanding individual variations in drug response and risks for diseases linked to lipid metabolism.

CYP4F11

CHRNB3 (Cholinergic Receptor Nicotinic Beta 3 Subunit) is a protein that forms part of the nicotinic acetylcholine receptor, which plays a key role in cholinergic neurotransmission. Variations in the CHRNB3 gene have been linked to nicotine dependence and related behavioral traits, suggesting its involvement in the brain’s addiction pathways and neural circuitry regulation.

CHRNB3

ORC5 (Origin Recognition Complex Subunit 5): ORC5 is a protein that is part of the origin recognition complex, a critical component in the initiation of DNA replication in eukaryotic cells. It plays an essential role in ensuring accurate DNA replication, which is vital for maintaining genomic integrity. Dysfunction in ORC5 or the replication initiation process can lead to genomic instability, a characteristic of cancer cells, and contribute to developmental disorders related to impaired cell proliferation.

ORC5

FUCA1 (Alpha-L-Fucosidase 1): FUCA1 (Alpha-L-Fucosidase 1) is a gene that encodes an enzyme responsible for breaking down fucose, a sugar component found in complex carbohydrates. This enzyme plays a key role in metabolic processes, and deficiencies in FUCA1 can cause fucosidosis, a rare lysosomal storage disorder. Studying FUCA1 helps improve understanding of metabolic pathways and related disorders.

FUCA1

CTLA4 (Cytotoxic T-Lymphocyte-Associated Protein 4) is a gene that encodes a protein involved in downregulating immune responses by inhibiting T-cell activation. It competes with CD28 for binding to CD80/CD86 on antigen-presenting cells, helping to maintain immune balance and prevent overactivation. Dysregulation of CTLA4 is linked to autoimmune conditions and impaired immune tolerance.

CTLA4

CBLL1 (Cbl Proto-Oncogene Like 1): CBLL1 is a gene that encodes a protein related to the Cbl family, which plays a role in signal transduction and regulation of cellular activities. This protein is involved in the ubiquitin-proteasome pathway, helping control protein degradation and turnover within the cell.

CBLL1

FSHR, or Follicle-Stimulating Hormone Receptor, is a receptor protein primarily found on ovarian granulosa cells in females and Sertoli cells in males. It plays a key role in reproductive function by mediating the effects of follicle-stimulating hormone (FSH), which is secreted by the anterior pituitary gland. FSHR is essential for processes like folliculogenesis—the growth and maturation of ovarian follicles in females—by triggering signaling pathways that promote cell growth and development.

FSHR

CACNB2, also known as Calcium Channel Voltage-Dependent Beta 2 Subunit, is a protein that plays a key role in the function of voltage-gated calcium channels (VGCCs). These channels regulate calcium entry into cells in response to changes in membrane potential, influencing vital processes such as neurotransmitter release, muscle contraction, and gene expression. CACNB2 serves primarily as a regulatory subunit of VGCCs, interacting with the pore-forming alpha subunits to modulate their voltage sensitivity, channel opening and closing kinetics, and calcium conductance.

CACNB2

SLC7A11 (Solute Carrier Family 7 Member 11): SLC7A11 is a key component of the xCT transporter system, responsible for exchanging extracellular cystine with intracellular glutamate. This exchange is vital for maintaining intracellular glutathione levels, which protect cells against oxidative stress. Overexpression of SLC7A11 has been linked to enhanced survival of cancer cells under oxidative conditions, making it an important focus in cancer therapy research.

SLC7A11

G2E3 (G2/M-Phase Specific E3 Ubiquitin Protein Ligase): G2E3 is a gene that encodes an E3 ubiquitin ligase involved in regulating the cell cycle, especially during the G2/M phase transition. It helps tag proteins for degradation, controlling key cell cycle regulators. Dysregulation of G2E3 may lead to cell cycle disruptions and contribute to cancer development.

G2E3

BLOC1S2 (Biogenesis of Lysosomal Organelles Complex-1, Subunit 2) is a protein component of a complex that supports the formation of lysosome-related organelles, including melanosomes and platelet dense granules. Proper function of BLOC1S2 is essential for pigmentation processes and platelet function, while defects can lead to disorders affecting skin color and blood clotting.

BLOC1S2

RPL39 (Mitochondrial Ribosomal Protein L39): MRPL39 is a gene that encodes a protein component of the mitochondrial ribosome, essential for mitochondrial protein synthesis. This process supports the production of mitochondrial respiratory chain components, which are critical for cellular energy generation. MRPL39 plays a key role in mitochondrial function, and its dysfunction may contribute to disorders affecting energy metabolism, including neurodegenerative, muscular, and metabolic diseases.

MRPL39

CHODL (Chondrolectin) is a gene that encodes a protein potentially involved in cell adhesion and chondrocyte differentiation. While its precise function is not yet fully understood, evidence suggests it may play a role in cartilage formation and musculoskeletal development.

CHODL

FZD10 (Frizzled Class Receptor 10): FZD10 is a receptor that binds Wnt signaling proteins, playing a key role in embryonic development, cell proliferation, and differentiation. It is especially involved in the Wnt/β-catenin signaling pathway and has been linked to cancer development, particularly when Wnt signaling is dysregulated.

FZD10

HDHD2 (Haloacid Dehalogenase-Like Hydrolase Domain Containing 2): HDHD2 is a gene that encodes an enzyme belonging to the haloacid dehalogenase-like hydrolase family. While its exact biological functions are not fully defined, HDHD2 is believed to participate in cellular metabolic processes and signaling pathways.

HDHD2

FOXA2 (Forkhead Box A2): FOXA2 is a transcription factor that plays a critical role in the development and function of multiple tissues, including the liver, pancreas, and lungs. It regulates genes involved in metabolism, development, and cell differentiation. In the pancreas, FOXA2 is essential for the formation and proper function of insulin-producing beta cells, helping maintain glucose balance by controlling genes related to insulin secretion and glucose metabolism.

FOXA2

AGPAT5 (1-Acylglycerol-3-Phosphate O-Acyltransferase 5): AGPAT5 is an enzyme that plays a key role in the biosynthesis of phospholipids, essential components of cell membranes. It catalyzes the conversion of lysophosphatidic acid to phosphatidic acid, a critical step in producing various phospholipids. Dysregulation of AGPAT5 can disrupt lipid metabolism and is associated with conditions such as obesity and lipodystrophy.

AGPAT5

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 key role in metabolizing and detoxifying the chemotherapeutic drug bleomycin. Bleomycin works by causing DNA damage in cancer cells but can also lead to lung toxicity as a side effect. BLMH helps break down bleomycin into harmless compounds, reducing 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 investigate ways to enhance the safety and effectiveness 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 important for proper mitochondrial protein synthesis and function. Mutations in NSUN3 have been linked to 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 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) 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 the assembly of 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 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 acts as an alarm signal when released by cells under stress or injury. It binds to the ST2 receptor, triggering inflammatory responses, and plays a key role in conditions such as allergies, asthma, and other inflammatory diseases. Research on IL33 explores its dual role in promoting inflammation and providing protection, with potential implications for therapies targeting chronic inflammation and immune dysregulation.

IL33

GNMT (Glycine N-Methyltransferase) is an important enzyme involved in methionine metabolism and liver detoxification. It helps regulate homocysteine levels by converting excess methionine into sarcosine, preventing harmful methionine accumulation and supporting liver health. Dysfunction of GNMT is associated with liver conditions such as fatty liver disease and liver cancer. Ongoing research highlights GNMT’s protective role against liver toxicity and its potential as a marker for assessing 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 key role in cellular detoxification and metabolism regulation. As a member of the phosphotriesterase-related protein family, PTER is involved in breaking down chemical compounds, including organophosphate pesticides and nerve agents. Its enzymatic activity helps protect cells from chemical damage, and it is also implicated in cellular signaling and metabolic processes. Dysregulation of PTER expression or activity can increase susceptibility to chemical toxicity and metabolic disturbances.

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 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, indicating a role in signal transduction and calcium binding. While its specific functions are still being studied, RASEF may participate 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 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 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 an important enzyme that helps regulate thyroid hormone activity in the body. Found mainly in tissues such as the liver, brain, and placenta, DIO3 controls thyroid hormone levels by converting active hormones into inactive forms. This process helps adjust hormone signaling in specific tissues, ensuring proper metabolic regulation 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. Such proteins are important for processes like mRNA splicing, transport, and stability. While the precise role of SRBD1 is still being investigated, it may contribute to the regulation of 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, 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 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 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 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 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 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 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 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 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

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MMUT

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