SLC45A1 (Solute Carrier Family 45 Member 1): SLC45A1 is a transporter protein that helps move sugars and other molecules across cell membranes. It plays a role in metabolic processes, and when it malfunctions, it can disturb the balance of cellular energy and overall metabolism.

SLC45A1

CYP4F2 (Cytochrome P450 Family 4 Subfamily F Member 2) is an enzyme involved in the metabolism of fatty acids, vitamin K, eicosanoids, and various drugs and toxins. It helps regulate blood clotting and inflammation. Genetic variations in CYP4F2 can influence how the body processes certain medications, especially anticoagulants.

CYP4F2

BACH2 (BTB and CNC Homology 1, Basic Leucine Zipper Transcription Factor 2): BACH2 is a gene that encodes a transcription factor involved in regulating the immune system. It plays a key role in maintaining immune balance by controlling the development and function of important immune cells, such as B cells and T cells. Dysregulation of BACH2 has been linked to autoimmune diseases and increased susceptibility to infections.

BACH2

ARHGAP32 is a protein that regulates the activity of Rho GTPases, key molecules involved in controlling cell shape, movement, and attachment. By affecting the dynamics of the actin cytoskeleton, ARHGAP32 plays an essential role in processes such as cell migration and proliferation. Its function is particularly important in neurological development and disorders, as well as in cancer, where cell migration and invasion are crucial.

ARHGAP32

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

DPYD

ETV3 (ETS Variant Transcription Factor 3) is a member of the ETS family of transcription factors that regulate gene expression critical for cell growth, development, and differentiation. ETV3 mainly acts as a transcriptional repressor and plays key roles in controlling immune responses and other biological processes.

ETV3

SORCS1 (Sortilin-Related VPS10 Domain Containing Receptor 1): SORCS1 is a gene that encodes a receptor involved in protein trafficking and sorting within cells. This receptor plays a key role in regulating receptor signaling and is associated with neural development and synaptic function.

SORCS1

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

ZMYM6

CXCL5 (C-X-C motif chemokine ligand 5) is a signaling protein that helps recruit neutrophils—a type of white blood cell—to sites of inflammation or injury. It plays an essential role in the body’s innate immune defense and contributes to inflammatory processes in conditions ranging from infections to chronic inflammatory diseases. CXCL5 is also associated with cancer progression, where it can promote tumor growth and metastasis by attracting and activating neutrophils within the tumor microenvironment.

CXCL5

DHFR (Dihydrofolate Reductase) is an enzyme that plays a crucial role in DNA synthesis and repair. It catalyzes the conversion of dihydrofolate to tetrahydrofolate, an essential cofactor for producing purines, thymidylate, and certain amino acids. This process is vital for cell growth and division, making DHFR a key target in cancer treatment, where inhibitors such as methotrexate block its activity to stop rapidly dividing cells.

DHFR

CLPTM1 (Cleft Lip and Palate Transmembrane Protein 1): CLPTM1 is a transmembrane protein involved in essential cellular processes such as cell proliferation, apoptosis, and carcinogenesis. Although its precise function is not yet fully understood, research suggests it plays a role in cancer development and progression. CLPTM1 expression has been associated with several cancers, including lung, pancreatic, and ovarian cancers, where it may promote tumor growth and metastasis. It is also linked to smoking-related cancers due to its interaction with tobacco-associated carcinogens. Understanding the molecular mechanisms of CLPTM1 could provide valuable insights into cancer biology and potential therapeutic strategies.

CLPTM1

ANAPC4 (Anaphase Promoting Complex Subunit 4) is a protein that is part of the anaphase-promoting complex/cyclosome (APC/C), a key regulator of the cell cycle. It helps mark specific proteins for degradation, thereby controlling the timely progression of cells through various stages of division. Proper functioning of ANAPC4 is essential for normal cell cycle regulation, and its malfunction may contribute to abnormalities associated with cancer development and progression.

ANAPC4

GBP3 (Guanylate Binding Protein 3) is a member of the guanylate-binding protein family that plays a crucial role in the immune system. It is particularly important for defending against intracellular pathogens, including viruses and bacteria. GBP3 also helps regulate inflammatory responses during infections.

GBP3

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

XXYLT1

FZD8 (Frizzled Class Receptor 8): FZD8 is a gene that encodes a receptor for Wnt signaling proteins. It plays a critical role in embryonic development and cell signaling pathways. FZD8 is vital for processes such as cell differentiation, proliferation, and polarity. Abnormalities in FZD8 signaling are associated with developmental defects and various types of cancer.

FZD8

DACH1 (Dachshund Homolog 1) is a transcription factor that helps regulate gene expression in cells. It plays important roles in processes such as development and cell differentiation. Depending on the context, especially in different types of cancer, DACH1 can function either as a tumor suppressor or an oncogene.

DACH1

ADAM32 (ADAM Metallopeptidase Domain 32) belongs to the ADAM family of enzymes, recognized for their roles in cell adhesion and the proteolytic processing of cell surface proteins. These enzymes play key roles in biological processes such as cell signaling, fertilization, and cell migration. Although the specific functions of ADAM32 are still being studied, it is thought to participate in tissue remodeling, cell-cell interactions, and possibly reproductive functions.

ADAM32

NSG1 (Neuronal Vesicle Trafficking-Associated 1): NSG1 is a gene involved in neuronal vesicle trafficking and synapse formation. It plays a key role in regulating neurotransmitter release and synaptic transmission. Understanding NSG1 is important for exploring the mechanisms behind neuronal communication and synaptic plasticity, which are essential for brain function.

NSG1

HACD4 (Hydroxyacyl-CoA Dehydratase 4): HACD4 is an enzyme involved in the biosynthesis of very long-chain fatty acids (VLCFAs). These fatty acids are essential for maintaining cellular functions such as membrane structure and energy storage. HACD4 plays a key role in lipid metabolism and has been linked to skin development and function.

HACD4

FFAR4 (Free Fatty Acid Receptor 4) is a receptor that binds omega-3 fatty acids and plays a crucial role in regulating metabolism and inflammation. It helps improve insulin sensitivity, reduce inflammatory responses, and control appetite. FFAR4 is being researched as a promising target for treating metabolic conditions such as obesity and type 2 diabetes.

FFAR4

ACAN (Aggrecan) is a gene that encodes aggrecan, a key proteoglycan found in the extracellular matrix of cartilage and other connective tissues. Aggrecan is essential for maintaining cartilage structure and ensuring proper joint function. Mutations in ACAN can disrupt bone and cartilage development, leading to skeletal disorders such as spondyloepimetaphyseal dysplasia.

ACAN

FYB2 (FYN Binding Protein 2): FYB2 is a protein that serves as an adaptor involved in signal transduction pathways within immune cells. Also known as ADAP2, it facilitates interactions among various signaling molecules and plays a crucial role in regulating immune cell activation and response. Understanding FYB2’s function is essential for exploring mechanisms of immune regulation and related disorders.

FYB2

FCRL3 (Fc Receptor-Like 3) is a protein mainly expressed in B cells and is a member of the Fc receptor-like (FCRL) family. It plays a role in regulating B cell receptor signaling and antibody production, affecting immune system function and potentially contributing to the development of autoimmune diseases.

FCRL3

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

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

BEND5

PRSS1 (Protease, Serine 1): PRSS1 is a gene that encodes trypsin, a digestive enzyme produced in the pancreas. Trypsin plays a crucial role in digestion by breaking down proteins. Mutations in PRSS1 can lead to hereditary pancreatitis, a condition characterized by recurring episodes of pancreatic inflammation. Understanding PRSS1 is essential for gaining insights into pancreatic function and managing pancreatic diseases.

PRSS1

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

DEF8

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

FGGY

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

ALCAM

UGT1A6 (UDP Glucuronosyltransferase Family 1 Member A6) is a gene that encodes an enzyme from the UDP glucuronosyltransferase family. This enzyme plays a crucial role in phase II metabolism by aiding the conjugation of drugs, toxins, and endogenous compounds with glucuronic acid, facilitating their elimination from the body. UGT1A6 is vital for detoxification and maintaining overall metabolic balance.

UGT1A6

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

ZNF816

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 assembly of protein complexes. It may play a role in regulating ion channels or other cellular processes through its function in complex formation and signaling pathways.

KCTD9

SYCP2L (Synaptonemal Complex Protein 2-Like): SYCP2L is a protein involved in meiosis, playing a crucial 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 in the cytochrome P450 family. It plays a crucial role in the oxidation of fatty acids and drug metabolism. The function of CYP4F11 in lipid processing and drug detoxification is essential for understanding individual differences in drug response and the risk of diseases related to lipid metabolism.

CYP4F11

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

CHRNB3

ORC5 (Origin Recognition Complex Subunit 5): ORC5 is a protein that forms part of the origin recognition complex, a key component in initiating DNA replication in eukaryotic cells. It plays a crucial role in ensuring precise DNA replication, which is essential for maintaining genomic stability. Dysfunction in ORC5 or the replication initiation process can result in genomic instability, a hallmark of cancer cells, and contribute to developmental disorders associated with 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 responsible for downregulating immune responses by inhibiting T-cell activation. It competes with CD28 to bind CD80/CD86 on antigen-presenting cells, aiding in maintaining immune balance and preventing overactivation. Dysregulation of CTLA4 is associated with autoimmune diseases 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 mainly found on ovarian granulosa cells in females and Sertoli cells in males. It plays a crucial role in reproductive function by mediating the effects of follicle-stimulating hormone (FSH), which is secreted by the anterior pituitary gland. FSHR is vital for processes such as folliculogenesis—the growth and maturation of ovarian follicles in females—by activating signaling pathways that encourage cell growth and development.

FSHR

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

CACNB2

SLC7A11 (Solute Carrier Family 7 Member 11): SLC7A11 is a crucial part of the xCT transporter system, responsible for exchanging extracellular cystine with intracellular glutamate. This exchange is essential for maintaining intracellular glutathione levels, which protect cells from oxidative stress. Overexpression of SLC7A11 has been associated with increased survival of cancer cells under oxidative conditions, making it a significant target 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, particularly during the G2/M phase transition. It helps tag proteins for degradation, controlling key regulators of the cell cycle. Dysregulation of G2E3 can 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 exact 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 crucial role in embryonic development, cell proliferation, and differentiation. It is particularly involved in the Wnt/β-catenin signaling pathway and has been associated with cancer development, especially when Wnt signaling is dysregulated.

FZD10

HDHD2 (Haloacid Dehalogenase-Like Hydrolase Domain Containing 2): HDHD2 is a gene that encodes an enzyme from the haloacid dehalogenase-like hydrolase family. Although its precise biological functions are not completely understood, HDHD2 is thought to be involved in cellular metabolic processes and signaling pathways.

HDHD2

FOXA2 (Forkhead Box A2): FOXA2 is a transcription factor that plays a crucial role in the development and function of various tissues, including the liver, pancreas, and lungs. It regulates genes involved in metabolism, development, and cell differentiation. In the pancreas, FOXA2 is vital 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 crucial role in the biosynthesis of phospholipids, which are essential components of cell membranes. It catalyzes the conversion of lysophosphatidic acid into phosphatidic acid, a vital step in the production of various phospholipids. Dysregulation of AGPAT5 can disrupt lipid metabolism and is linked to 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 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

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.

CHODL

Description

Tests containing this item