DNA Gut Health Test

About this test

Key Benefits

• Gain insight into your genetic predisposition for gut health and digestion.

• Simple At-Home Testing: Collect your sample easily using a saliva test, no clinic visit needed.

• Comprehensive Genetic Analysis: Analyze over 219 genes linked to gut function.

• Personalized Recommendations: Receive tailored insights based on your unique genetic profile.

• Support Better Decisions: Helps you make informed choices for diet, digestion, and overall well-being.

What This Test Measures

This test analyzes genetic markers related to multiple aspects of gut health, including:

Digestion & Gut Function
Markers linked to indigestion, acid reflux, constipation, and irritable bowel tendencies

Nutrient Absorption & Metabolism
Genes influencing iron absorption, enzyme activity, and nutrient processing

Food Sensitivities
Genetic predisposition for lactose intolerance (LCT) and gluten sensitivity (celiac-related genes)

Gut Inflammation & Immune Response
Markers related to inflammation, immune activity, and gut barrier function

Microbiome Diversity
Genes influencing the balance and diversity of gut bacteria

Infection Susceptibility
Genetic markers associated with H. pylori, C. difficile, and other gastrointestinal infections

By analyzing these areas, the test provides insight into how your genetics may influence your digestive system and gut health.

Who Is This Test For

This test is suitable for individuals who:

Experience digestive issues or gut discomfort
Want to optimize their diet and nutrient absorption
Are interested in their microbiome and gut balance
Want a deeper understanding of their genetic impact on gut health

How It Works

Order Your Kit: Purchase your test online.
Collect Your Sample: Provide a saliva sample using the collection kit.
Send It Back: Mail your sample to the laboratory using the prepaid return envelope.
Receive Results: Access your detailed digital results within 3–5 weeks.

Sample Collection

The sample is collected using a simple saliva test at home. You provide a small saliva sample in the collection tube, which contains a stabilizing solution to preserve the DNA during transport. This method is non-invasive and easy to perform.

About the Result Reports

Once your analysis is complete, you will receive three separate DNA reports based on your selected tests. These are usually delivered at the same time.

Each report is clear and easy to understand, including your genetic results, explanations, and personalized recommendations.

You will also have access to an example report. If you need help interpreting your results, our support team is available.

Please note: Reports are available in English only.

ISO-Certified Lab and Analysis

Your sample is analyzed in an ISO-certified laboratory using the Illumina GSA Microarray, a SNP-based DNA genotyping technology (Single Nucleotide Polymorphisms), ensuring accurate and reliable results.

Biomarkers included

• NWD2: NWD2 (NACHT and WD Repeat Domain Containing 2): NWD2 (NACHT and WD Repeat Domain Containing 2) is a gene that belongs to a family characterized by NACHT and WD repeat domains. These domains are involved in immune and inflammatory responses. NWD2 is believed to play a role in regulating innate immunity and inflammation. Understanding NWD2 is important for gaining insights into immune system disorde
• ISCA2: ISCA2 (Iron-Sulfur Cluster Assembly 2): ISCA2 is a protein involved in the formation of iron-sulfur clusters, which are essential for proper mitochondrial function and cellular energy production. ISCA2 plays a key role in maintaining energy metabolism within cells, and mutations in this gene can lead to mitochondrial disorders with diverse clinical symptoms.
• SRBD1: 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.
• VIPR2: VIPR2 (Vasoactive Intestinal Peptide Receptor 2) is a gene that encodes a receptor for vasoactive intestinal peptide (VIP), a neuropeptide involved in regulating smooth muscle relaxation, immune responses, and neurotransmission. This receptor is present on the surface of cells in various tissues and plays a key role in mediating VIP signaling pathways.
• ABO: ABO (ABO Blood Group System):ABO is a gene that determines an individual’s ABO blood group. It encodes enzymes that modify glycoproteins and glycolipids on the surface of red blood cells, resulting in the different blood types (A, B, AB, and O). Variations in this gene are important for blood transfusion compatibility and have also been linked to risks for cardiovascular diseases and certain cance
• LRRN1: LRRN1 (Leucine-Rich Repeat Neuronal 1): LRRN1 is a gene that reflects its role in neural development. It encodes a protein belonging to the leucine-rich repeat family, which is important for protein-protein interactions and the formation and maintenance of neural connections. LRRN1 is significant for understanding neural development and may be implicated in neurodevelopmental disorders.
• MS4A13: MS4A13 (Membrane Spanning 4-Domains A13): MS4A13 is a gene that belongs to the MS4A family, which is involved in signal transduction and cellular activation. While the specific role of MS4A13 is not well understood, members of this family are important in immune responses and have been linked to diseases such as Alzheimer’s.
• UTP20: UTP20 (UTP20, Small Subunit Processome Component): UTP20 is a protein involved in the processing and assembly of 18S rRNA, an essential part of the small ribosomal subunit. It plays a key role in ribosome biogenesis, which is critical for protein synthesis. Dysfunction in UTP20 can impact cell growth and proliferation, with potential links to developmental disorders and cancer.
• IL23R: IL23R (Interleukin 23 Receptor): IL23R is a gene that encodes the receptor for interleukin-23 (IL-23), a cytokine involved in immune regulation. The IL23R receptor is mainly present on immune cells, where its activation is essential for the differentiation and function of T helper 17 (Th17) cells, which contribute to inflammatory responses and the development of autoimmune diseases.
• P2RY12: P2RY12 (Purinergic Receptor P2Y12): P2RY12 is a receptor for adenosine diphosphate (ADP) that plays a key role in platelet aggregation — an essential process in blood clot formation. It is a primary target for antiplatelet drugs used to prevent thrombosis in cardiovascular diseases. Understanding P2RY12 is important for maintaining cardiovascular health and managing clotting disorders.
• BHLHE41: BHLHE41 (Basic Helix-Loop-Helix Family, Member E41): BHLHE41, also known as DEC2, is a transcription factor involved in regulating circadian rhythms and sleep. Variations in this gene are linked to the natural short sleep phenotype, where individuals function well with less sleep than average. Studying BHLHE41 may offer insights into sleep disorders and circadian rhythm regulation.
• TUB: TUB (Tubby Bipartite Transcription Factor): TUB is a gene that encodes the Tubby bipartite transcription factor, which plays a key role in regulating appetite and body weight. Mutations in TUB have been associated with obesity and retinal degeneration. This gene is particularly important for understanding metabolic disorders and eye diseases, offering insights into the genetic factors underlying o
• CPLANE2: CPLANE2 (Ciliogenesis and Planar Polarity Effector 2): CPLANE2 is a gene involved in ciliogenesis and the establishment of planar cell polarity (PCP). It plays a role in the formation and function of cilia, which are essential cellular structures involved in processes such as signal transduction and cell motility.
• PCDH15: PCDH15 (Protocadherin 15): PCDH15 is a gene that encodes a member of the protocadherin family, which plays a key role in cell-cell adhesion and neuronal connectivity. PCDH15 is essential for the proper function of sensory hair cells in the inner ear, and mutations in this gene are associated with hearing impairment and deafness.
• FANCI: FANCI (FA Complementation Group I): FANCI is a key protein in the Fanconi anemia (FA) pathway, essential for DNA repair. It plays a vital role in responding to DNA damage and maintaining genomic stability. Mutations in FANCI can lead to Fanconi anemia, a disorder marked by bone marrow failure, increased cancer risk, and developmental abnormalities.
• PGPEP1: PGPEP1 (Pyroglutamyl-Peptidase I): PGPEP1 is a gene that encodes an enzyme responsible for removing pyroglutamate residues from the N-terminus of peptides and proteins. This activity supports the degradation and recycling of peptides, contributing to various cellular processes.
• CCBE1: CCBE1 (Collagen And Calcium Binding EGF Domains 1): CCBE1 is a gene essential for lymphangiogenesis, the formation of lymphatic vessels. It regulates vascular endothelial growth factor C (VEGF-C), a key factor in lymphatic system development. Mutations in CCBE1 can cause Hennekam syndrome, a rare disorder marked by lymphedema, lymphangiectasia, and intellectual disability.
• PITX2: PITX2 (Paired Like Homeodomain 2): PITX2 is a transcription factor that plays a crucial role in the development of multiple organ systems, including the eyes, heart, and abdominal organs. It is involved in establishing the body’s left-right asymmetry. Mutations in PITX2 are linked to Axenfeld-Rieger syndrome, a condition that affects the eyes and other organs. Understanding PITX2 is important for
• MRM2: MRM2 (Mitochondrial Ribosomal Protein MRP-L23): MRM2 is a gene that encodes a key component of the mitochondrial ribosome — the cellular machinery responsible for producing proteins within mitochondria. These proteins are vital for mitochondrial function and energy production. The role of MRM2 in mitochondrial protein synthesis is essential for maintaining proper cellular energy metabolism and ove
• LSR: LSR (Lipolysis-Stimulated Lipoprotein Receptor): LSR is a gene that encodes a receptor protein involved in the uptake of lipoproteins, including chylomicrons and very-low-density lipoproteins (VLDL). It plays a vital role in lipid metabolism and the transport of dietary fats. Dysregulation of LSR can contribute to lipid disorders and cardiovascular diseases.
• URAD: URAD (Ureidoimidazole-4-Carboxamide Ribonucleotide Decarboxylase): URAD is a gene that encodes an enzyme involved in the de novo synthesis of purine nucleotides, essential for DNA and RNA production. It plays a key role in nucleotide metabolism and is important for cell proliferation and growth.
• PIK3R1: PIK3R1 (Phosphoinositide-3-Kinase, Regulatory Subunit 1): PIK3R1 is a gene that encodes a regulatory subunit of phosphoinositide 3-kinase (PI3K), a key component in signaling pathways that regulate cell growth, proliferation, and survival. Mutations in PIK3R1 are linked to various cancers and serve as targets for cancer therapies. Additionally, it plays a role in insulin signaling and is associate
• MTARC1: MTARC1 (Mitochondrial Amidoxime Reducing Component 1): MTARC1 is a mitochondrial gene that plays a key role in the reduction of N-hydroxylated compounds, a process important for detoxification. It is involved in cellular metabolism and energy production. Changes in MTARC1 can impact mitochondrial function, which is essential for energy generation in cells. Studying MTARC1 is important for understa
• DLEU7: DLEU7 (Deleted in Lymphocytic Leukemia 7) is a gene identified for its potential role in cancer biology, particularly in chronic lymphocytic leukemia (CLL). It is believed to influence key processes such as cell cycle control and programmed cell death (apoptosis). Loss or malfunction of DLEU7 may contribute to cancer development and progression, making it a focus of research for new diagnostic mar
• PAPLN: PAPLN (Pappalysin 1): PAPLN is a gene associated with pregnancy-associated plasma protein-A (PAPP-A). PAPP-A is involved in pregnancy-related processes and plays a key role in regulating insulin-like growth factor (IGF) signaling.
• HIVEP2: 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.
• TRIB1: TRIB1 (Tribbles Pseudokinase 1): TRIB1 is a gene that encodes a pseudokinase protein belonging to the Tribbles family. TRIB1 plays key roles in regulating multiple cellular signaling pathways, including those involved in growth, metabolism, and inflammation. It has been linked to lipid metabolism, cardiovascular health, and cancer, with its complex functions continuing to be an active area of rese
• ATP8B1: ATP8B1 (ATPase Phospholipid Transporting 8B1) is a gene that encodes a phospholipid transporter found in the liver cell membrane. It helps maintain the lipid balance of cell membranes and bile. Mutations in ATP8B1 can lead to progressive familial intrahepatic cholestasis (PFIC), a group of inherited liver disorders.
• MST1: MST1 (Macrophage Stimulating 1): MST1 is a gene that encodes a protein involved in activating macrophages, essential cells of the immune system. It contributes to inflammation and immune defense and has been linked to the development of autoimmune disorders and certain cancers.
• FTO: The FTO (Fat Mass and Obesity-Associated) gene is a key genetic factor linked to obesity and body mass index (BMI). It plays an important role in regulating metabolic processes such as energy balance and fat storage. Variations in the FTO gene can influence appetite control and how the body expends energy, making it central to understanding obesity risk and potential treatments.
• IGF1R: IGF1R (Insulin-like Growth Factor 1 Receptor) is a gene that encodes a receptor involved in mediating the effects of insulin-like growth factors. It plays a key role in regulating cell growth, survival, and metabolism. Dysregulation of IGF1R has been linked to various diseases, highlighting its importance in both developmental biology and clinical research.
• PON2: PON2 (Paraoxonase 2): PON2 is a gene that encodes an enzyme belonging to the paraoxonase family. This enzyme plays a key role in detoxification and antioxidant defense, helping to protect the body against oxidative stress and lipid peroxidation. PON2 is therefore important for cardiovascular health and other conditions related to oxidative stress.
• SLC22A5: SLC22A5 (Solute Carrier Family 22 Member 5): SLC22A5 is a protein, also known as OCTN2, that functions as a key carnitine transporter in the body. It facilitates the cellular uptake of carnitine, a compound essential for moving fatty acids into mitochondria for energy production. This process is critical for energy metabolism in tissues such as the heart and muscles. Mutations in the SLC22A5 gene
• MCUR1: MCUR1 (Mitochondrial Calcium Uniporter Regulator 1): MCUR1 is a gene that reflects the regulation of the mitochondrial calcium uniporter (MCU), a protein complex responsible for calcium uptake into mitochondria. MCUR1 plays a key role in maintaining proper mitochondrial calcium levels, which are essential for energy production, cell survival, and overall mitochondrial function.
• OAT: OAT (Ornithine Aminotransferase): OAT is a gene that encodes the ornithine aminotransferase enzyme, which plays a key role in the urea cycle. This enzyme catalyzes the conversion of ornithine to citrulline, helping the body detoxify ammonia. Mutations in OAT can disrupt this process, leading to hyperammonemia — a condition marked by elevated blood ammonia levels that can affect neurological functi
• ATP8B2: ATP8B2 (ATPase Phospholipid Transporting 8B2): ATP8B2 is a gene that encodes an ATPase enzyme involved in transporting phospholipids across cell membranes. This process is essential for maintaining membrane integrity and cellular homeostasis. ATP8B2 likely plays a role in regulating the lipid composition of cell membranes.
• ENPEP: ENPEP (Glutamyl Aminopeptidase) is a gene that encodes an enzyme involved in regulating blood pressure and fluid balance. It functions within the angiotensin pathway by processing angiotensin II, a molecule that causes blood vessels to constrict. Changes in ENPEP activity have been linked to hypertension and cardiovascular conditions, making it a focus of research in vascular health.
• MORC4: MORC4 (MORC Family CW-Type Zinc Finger 4): MORC4 is a gene involved in chromatin remodeling and the regulation of gene expression. It plays important roles in cellular processes such as DNA repair and apoptosis. Mutations or dysfunctions in MORC4 may be associated with various cancers and developmental disorders, making it a key focus in research on gene regulation and cancer biology.
• PHF14: PHF14 (PHD Finger Protein 14): PHF14 is a gene that encodes a protein containing a PHD finger domain. This suggests a role in chromatin-mediated regulation of gene expression. PHF14 may be involved in developmental processes and cell differentiation. Dysregulation of PHF14 has been linked to developmental disorders and various cancers.
• HLA-B: HLA-B (Human Leukocyte Antigen B): HLA-B is a gene that encodes a major histocompatibility complex (MHC) class I protein. These proteins are essential for presenting antigens to immune cells and play a central role in the adaptive immune response. The diversity of HLA-B contributes to an individual’s immune system ability to recognize and respond to various pathogens.
• LGSN: LGSN (Lengsin): LGSN is a lens-specific protein involved in maintaining and regenerating the lens in the eye. It plays a key role in preserving the transparency and refractive properties of the lens. Mutations in LGSN are linked to cataract formation, highlighting its importance in eye health and lens development.
• PPP6R2: PPP6R2 (Protein Phosphatase 6 Regulatory Subunit 2): PPP6R2 is a gene that encodes a regulatory subunit of protein phosphatase 6 (PP6). PP6 is involved in the dephosphorylation of target proteins and plays key roles in cell cycle regulation, DNA damage repair, and cellular signaling. PPP6R2 helps modulate the activity and specificity of PP6, influencing these critical cellular processes.
• HORMAD1: HORMAD1 (HORMA Domain-Containing Protein 1): HORMAD1 is a gene that encodes a protein containing a HORMA domain, which is involved in chromosome dynamics during meiosis. It plays a key role in regulating homologous chromosome pairing and segregation, contributing to genetic diversity and proper gamete formation.
• REX1BD: REX1BD (REX1 Basic Domain): REX1BD is a gene region characterized by a basic domain that may contribute to DNA binding or protein–protein interactions. While its exact functions and roles in cellular processes are not yet fully understood, ongoing research aims to clarify its significance in biological systems.
• CBLL1: 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.
• SLC10A2: SLC10A2 (Solute Carrier Family 10 Member 2): SLC10A2 is a gene that encodes a solute carrier protein responsible for the transport of bile acids in the intestines. Bile acids are essential for digesting and absorbing dietary fats. The function of SLC10A2 is crucial for maintaining bile acid balance, supporting efficient fat absorption, and regulating cholesterol metabolism. Disruptions in SLC10A2
• PRICKLE1: PRICKLE1 (Prickle Planar Cell Polarity Protein 1): PRICKLE1 is a gene involved in the planar cell polarity pathway, which coordinates the orientation of cells within tissue planes. It plays an important role in neural development and function. Mutations in PRICKLE1 have been linked to epilepsy and neurodevelopmental disorders.
• ATXN1: ATXN1 (Ataxin 1): ATXN1 is a gene that encodes the ataxin-1 protein, which plays a role in neuronal function. Mutations in ATXN1, especially those involving expanded CAG repeats, lead to spinocerebellar ataxia type 1 (SCA1) — a neurodegenerative disorder marked by progressive loss of motor coordination and balance. Studying ATXN1 is important for understanding SCA1 and developing potential treatme
• PRSS1: PRSS1 (Protease, Serine 1): PRSS1 is a gene that encodes trypsin, a digestive enzyme produced in the pancreas. Trypsin plays a key role in digestion by breaking down proteins. Mutations in PRSS1 can cause hereditary pancreatitis, a condition marked by repeated episodes of pancreatic inflammation. Understanding PRSS1 is important for insights into pancreatic function and managing pancreatic disorde
• PRRC2A: PRRC2A (Proline-Rich Coiled-Coil 2A): PRRC2A is a protein-coding gene that plays a role in key cellular processes, including cell division and gene regulation. It contains proline-rich domains and coiled-coil regions, which are important for protein-protein interactions. While its precise functions are still being studied, PRRC2A is associated with certain cancers and may influence cell growth and
• UBR5: UBR5 (Ubiquitin Protein Ligase E3 Component N-Recognin 5): UBR5 is a gene that encodes an E3 ubiquitin ligase involved in protein degradation through the ubiquitin-proteasome pathway. It plays a key role in regulating protein stability and turnover. Dysfunctions in UBR5 can affect various cellular processes and are linked to cancer development and neurodegenerative diseases. Understanding UBR5 is
• AMN1: AMN1 (Amnion Associated Transmembrane Protein 1): AMN1 is a gene that encodes a transmembrane protein linked to the amnion — the protective membrane surrounding the developing fetus. While its exact role is not fully understood, studies suggest it may contribute to amniotic fluid regulation and fetal development. Its relevance in prenatal physiology and possible connections to congenital disorders
• SVEP1: SVEP1 (Sushi, Von Willebrand Factor Type A, EGF And Pentraxin Domain Containing 1): SVEP1 is a cell adhesion molecule that supports the development of the cardiovascular and lymphatic systems. It is involved in cell-cell interactions and signaling pathways essential for vascular stability and immune function. Variations in SVEP1 have been associated with cardiovascular conditions and may influence
• SLITRK1: SLITRK1 (SLIT and NTRK-Like Family Member 1): SLITRK1 is a gene that encodes a protein belonging to the SLITRK family. This protein plays an important role in neuronal development and synaptic function. SLITRK1 is involved in processes such as neurite outgrowth and the formation and maintenance of neuronal connections.
• GRIN3A: GRIN3A (Glutamate Ionotropic Receptor NMDA Type Subunit 3A) is a gene that encodes a subunit of the NMDA receptor, part of the glutamate receptor family. NMDA receptors are essential for synaptic plasticity, learning, and memory, playing a central role in neuronal communication. Variations in GRIN3A can influence brain function and are of interest in neurological research.
• SLC25A34: SLC25A34 (Solute Carrier Family 25 Member 34): SLC25A34 is part of the solute carrier family, which is responsible for transporting various molecules across cellular membranes. While the exact function of SLC25A34 is not fully understood, members of this family play key roles in metabolic processes and maintaining cellular homeostasis. Research on this gene may offer important insights into metabo
• GPR158: GPR158 (G Protein-Coupled Receptor 158): GPR158 is a member of the G protein-coupled receptor (GPCR) family and plays a role in various physiological processes, including neuronal development and the regulation of mood and behavior. It has been associated with mental health conditions such as depression and anxiety, highlighting its significance in brain function and emotional regulation.
• IL12B: IL12B (Interleukin 12B): IL12B is a gene that encodes the p40 subunit of interleukin-12 (IL-12), a cytokine involved in immune responses. IL-12 plays a key role in activating the immune system by promoting the production of interferon-gamma (IFN-γ) and stimulating the activity of T cells and natural killer (NK) cells to fight infections and tumors.
• PPM1F: 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.
• IKZF2: IKZF2 (IKAROS Family Zinc Finger 2): IKZF2, also known as Helios, is a transcription factor essential for T-cell development and differentiation. It helps maintain regulatory T cell identity and supports immune tolerance. Dysregulation of IKZF2 has been linked to immune disorders and is being studied for its potential role in cancer immunotherapy.
• TMEM171: TMEM171 (Transmembrane Protein 171): TMEM171 is a gene that encodes a transmembrane protein. While its specific functions are not yet fully understood, transmembrane proteins generally play important roles in cell signaling, transport of molecules across membranes, and cellular communication. Further research is needed to clarify the precise roles of TMEM171 in cellular processes.
• INHBC: INHBC (Inhibin Beta C Subunit) is a member of the activin-inhibin family, which plays key roles in regulating reproduction, cell growth, and differentiation. It is involved in controlling the levels of follicle-stimulating hormone (FSH). Dysregulation of INHBC can impact reproductive health and may be linked to certain cancers.
• FLNB: FLNB (Filamin B): FLNB is a gene that encodes a protein essential for cross-linking actin filaments in the cytoskeleton. This protein plays a key role in maintaining the structure and function of cells. Mutations in FLNB lead to a group of skeletal disorders called filaminopathies, which include conditions such as spondylocarpotarsal synostosis syndrome and Larsen syndrome, characterized by skelet
• CELF4: CELF4 (CUGBP, Elav-Like Family Member 4): CELF4 is a gene that encodes an RNA-binding protein belonging to the CUGBP/Elav-like family. Proteins like CELF4 play important roles in RNA processing and the post-transcriptional regulation of gene expression. CELF4’s functions likely involve RNA metabolism and regulation, affecting a range of cellular processes.
• CSMD3: CSMD3 (CUB And Sushi Multiple Domains 3) is a gene that encodes a protein involved in cell adhesion and signaling. It also plays a role in regulating immune responses and neuronal development. Ongoing research is focused on understanding how CSMD3 contributes to conditions such as cancer and neurodevelopmental disorders.
• OLFM4: OLFM4 (Olfactomedin 4): OLFM4 is a gene that encodes a secreted protein expressed in various tissues, including the gastrointestinal tract. While its functions are not fully understood, OLFM4 is associated with the regulation of stem cell proliferation and differentiation in the gut, indicating a potential role in tissue regeneration and maintenance.
• COX7C: COX7C (Cytochrome C Oxidase Subunit 7C): COX7C is a gene that encodes a subunit of cytochrome c oxidase, an essential enzyme complex located in the mitochondria. This complex plays a key role in the electron transport chain, a vital step in cellular respiration. By aiding in the transfer of electrons and protons, COX7C helps drive the production of cellular energy in the form of adenosine triphosp
• NNMT: NNMT (Nicotinamide N-Methyltransferase): NNMT is an enzyme that methylates nicotinamide (vitamin B3) and plays a key role in regulating cellular metabolism and energy balance. Its activity has been associated with obesity, metabolic disorders, and cancer, making NNMT an important target for therapeutic interventions.
• PRSS37: PRSS37 (Protease, Serine 37): PRSS37 is a gene that encodes a serine protease enzyme involved in reproductive physiology. While its precise function is still being studied, it is believed to play a key role in sperm maturation and male fertility. Mutations in PRSS37 have been linked to male infertility, highlighting its importance in reproductive health research.
• C12ORF43: C12ORF43 (Chromosome 12 Open Reading Frame 43) is a gene that encodes a protein with a still-unclear function. Although research is ongoing, this protein may be involved in important cellular processes such as metabolism, signal transduction, or protein interactions. Its exact role and impact on health are not yet fully understood, but changes in its expression could potentially influence disease
• ST18: ST18 (Suppression of Tumorigenicity 18): ST18 is a gene linked to tumor suppression and the regulation of inflammation. It may help control cell growth and modulate immune responses, contributing to the prevention of tumor development.
• NSG1: 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.
• ADO: ADO (Adenosine Deaminase, RNA-Specific): ADO is a gene that encodes an enzyme responsible for RNA-specific adenosine deamination. This enzyme catalyzes the conversion of adenosine to inosine in RNA molecules, influencing RNA stability, function, and regulation. ADO plays a key role in RNA editing, contributing to the diversity and functionality of RNA molecules.
• CCDC158: CCDC158 (Coiled-Coil Domain Containing 158): CCDC158 is a gene that encodes a protein characterized by coiled-coil domains. Proteins with these domains often play important roles in protein-protein interactions and are involved in cellular structural organization or signaling pathways.
• TCF19: TCF19 (Transcription Factor 19): TCF19 is a gene that encodes a transcription factor involved in regulating the cell cycle. It helps control cell proliferation and may participate in the cellular response to DNA damage. Alterations in TCF19 function have been linked to cancer development, underscoring its significance in cell biology and oncology.
• BTN2A2: BTN2A2 (Butyrophilin Subfamily 2 Member A2) is a gene that encodes a protein from the butyrophilin family, which is involved in regulating immune responses. This protein plays a role in modulating T-cell activity and may influence how the immune system responds to pathogens, antigens, and inflammatory signals.
• NRIP1: NRIP1 (Nuclear Receptor Interacting Protein 1): NRIP1 is a gene that encodes a protein involved in nuclear receptor signaling. It acts as a coactivator for several nuclear receptors, including estrogen receptors (ERs) and peroxisome proliferator-activated receptors (PPARs). NRIP1 helps regulate gene expression in response to hormonal signals and is linked to processes such as metabolism and cell g
• NPC1: NPC1 (Niemann-Pick Disease, Type C1): NPC1 is a gene that plays a critical role in cholesterol trafficking within cells. Mutations in NPC1 lead to Niemann-Pick disease type C, a rare genetic disorder marked by the buildup of cholesterol and other lipids in cells, resulting in neurodegeneration and liver dysfunction.
• MXRA8: MXRA8 (Matrix Remodeling-Associated Protein 8): MXRA8 is a gene that encodes a protein involved in matrix remodeling, an important process for tissue development and repair. While its specific functions are still being studied, MXRA8’s role in extracellular matrix interactions suggests it may contribute to tissue homeostasis and regeneration, with potential implications for tissue engineering and
• OSR1: OSR1 (Odd-Skipped Related 1): OSR1 is a transcription factor gene that plays a key role in embryonic development, particularly in the formation of the heart and urogenital system. Proper regulation of OSR1 is essential, as mutations or dysregulation can lead to developmental abnormalities. Research on OSR1 is important for understanding congenital defects and developmental biology.
• EPB41L4A: EPB41L4A (Erythrocyte Membrane Protein Band 4.1 Like 4A): EPB41L4A is a gene that encodes a protein important for cytoskeletal organization and membrane stability. This protein helps maintain the structural integrity of cells, particularly red blood cells. Mutations in EPB41L4A can affect red blood cell shape and lead to related disorders.
• GCNT1: GCNT1 (Glucosaminyl (N-Acetyl) Transferase 1): GCNT1 is a gene that encodes an enzyme involved in the biosynthesis of mucins, key components of mucus. It contributes to the modification of glycoproteins, influencing cell signaling and immune function. Altered GCNT1 activity has been linked to conditions such as cystic fibrosis and certain cancers.
• AFF3: AFF3 (AF4/FMR2 Family Member 3): AFF3 is a gene involved in transcriptional regulation and chromatin organization. It belongs to the AF4/FMR2 family, which plays roles in controlling gene expression. AFF3 may help regulate gene transcription, influencing the development and function of various cell types.
• PHKB: PHKB (Phosphorylase Kinase Beta): PHKB is a component of the glycogenolysis pathway, crucial for glycogen breakdown. It serves as a regulatory subunit of phosphorylase kinase, which activates glycogen phosphorylase — the enzyme responsible for glycogen degradation. Mutations in PHKB can cause glycogen storage disease type IX, impacting liver and muscle function.
• HLA-DQA2: HLA-DQA2 (Human Leukocyte Antigen DQ Alpha 2): HLA-DQA2 is a gene within the HLA complex that plays a key role in immune system regulation through antigen presentation. It encodes an alpha chain that pairs with a beta chain to form the HLA-DQ molecule, which presents foreign antigens to T cells to trigger immune responses. Variations in HLA-DQA2 are linked to susceptibility to certain autoimmune d
• PPP1R17: PPP1R17 (Protein Phosphatase 1 Regulatory Subunit 17): PPP1R17 is a protein that functions as a regulatory subunit of protein phosphatase 1 (PP1). PP1 plays a key role in dephosphorylating target proteins and is essential for cell signaling, metabolism, and cell cycle regulation. PPP1R17 helps modulate the activity and specificity of PP1, influencing a range of cellular processes.
• NR2F2: NR2F2 (Nuclear Receptor Subfamily 2 Group F Member 2): NR2F2 is a transcription factor, also known as COUP-TFII, that plays a key role in the development and function of multiple organs, including the heart and vascular system. It regulates genes involved in angiogenesis (formation of new blood vessels) and metabolic processes. Abnormal NR2F2 activity is associated with developmental disorders and
• SPATA6: SPATA6 (Spermatogenesis Associated 6): SPATA6 is a gene important in spermatogenesis — the process of sperm cell development. It plays a key role in the formation and function of spermatozoa. Mutations in SPATA6 can cause male infertility, making it a significant factor in reproductive health.
• TGFBR2: TGFBR2 (Transforming Growth Factor Beta Receptor 2): TGFBR2 is a gene that encodes a key component of the TGF-beta signaling pathway, which regulates cell growth, differentiation, and immune responses. Mutations in TGFBR2 are linked to hereditary conditions like hereditary hemorrhagic telangiectasia (HHT) and may contribute to the development of certain cancers.
• ABCG5: ABCG5 (ATP Binding Cassette Subfamily G Member 5): ABCG5 is a gene that encodes a protein belonging to the ATP-binding cassette transporter family. It plays a key role in regulating dietary cholesterol by working together with ABCG8 to limit the absorption of sterols in the intestines and promote their excretion from the body. Mutations in ABCG5 are linked to sitosterolemia, a rare condition chara
• NIPSNAP3A: NIPSNAP3A (Nipsnap Homolog 3A) is a gene that encodes a protein believed to be involved in intracellular trafficking and mitochondrial function. While its exact role remains unclear, it is thought to contribute to cellular metabolism and energy production. Continued research on NIPSNAP3A may offer insights into mitochondrial health and metabolic disorders.
• H3C12: H3C12 (Histone Cluster 3, H3c12) is a gene that encodes a histone protein, which is essential for DNA packaging within chromosomes. Histones play a key role in regulating gene expression and maintaining chromosome structure. Changes in histone genes like H3C12 can affect cell function and have been linked to the development of various cancers.
• PNKD: PNKD (PNKD Serine/Threonine Kinase): PNKD is a gene that encodes a serine/threonine kinase, an enzyme involved in phosphorylation reactions. This gene plays a key role in regulating neuronal activity and movement control. Mutations in PNKD have been linked to paroxysmal nonkinesigenic dyskinesia, a neurological disorder characterized by sudden and involuntary movements.
• DOCK10: DOCK10 (Dedicator of Cytokinesis 10) is a gene involved in actin cytoskeleton remodeling, contributing to the activation and movement of immune cells, especially T-cells and B-cells. It plays a key role in regulating immune responses and may have implications in autoimmune conditions and immune system disorders.
• SAMM50: SAMM50 (Sorting and Assembly Machinery Component 50): SAMM50 is a gene that plays a key role in mitochondrial biology. It is an essential part of the mitochondrial protein import and assembly machinery, ensuring proper localization and function of proteins within the mitochondria. By supporting these processes, SAMM50 is crucial for cellular energy production and overall mitochondrial function.
• LRRC31: LRRC31 (Leucine-Rich Repeat-Containing Protein 31): LRRC31 is a gene that encodes a protein with leucine-rich repeats, structural motifs commonly involved in protein–protein interactions. Such proteins often participate in signaling pathways, immune responses, and other cellular functions. The specific roles of LRRC31 remain under investigation.
• KCTD1: KCTD1 (Potassium Channel Tetramerization Domain Containing 1): KCTD1 is a protein that interacts with potassium channels, influencing their activity. It plays important roles in cellular functions such as signal transduction and ion transport. Mutations in KCTD1 have been associated with developmental disorders, particularly affecting skin and hair.
• PDZD2: PDZD2 (PDZ Domain Containing 2): PDZD2 is a multi-PDZ domain protein that helps organize protein complexes at the cell membrane, supporting signal transduction and cellular communication. It is involved in various cellular functions, including synaptic signaling in neurons, and its dysregulation may be associated with neurological disorders.
• SIDT1: SIDT1 (SID1 Transmembrane Family, Member 1): SIDT1 is a protein involved in the cellular uptake of double-stranded RNA (dsRNA). It plays an important role in RNA interference and antiviral responses, contributing to the body’s defense against viral infections and aiding research into RNA-based therapeutic strategies.
• ADRB2: ADRB2 (Adrenoceptor Beta 2): ADRB2 is a gene that encodes the beta-2-adrenergic receptor, a protein involved in the body’s ‘fight or flight’ response. This receptor plays a key role in relaxing smooth muscles in the airways and blood vessels and serves as a target for medications used to treat asthma and COPD. Genetic variations in ADRB2 can influence an individual’s response to these treatments.
• ABCC5: ABCC5 (ATP-binding cassette subfamily C member 5) is a protein that functions as a cellular transporter, moving various molecules out of cells. It belongs to the ATP-binding cassette (ABC) transporter superfamily and plays a role in drug resistance, particularly in cancer. Understanding ABCC5 activity is important for improving chemotherapy effectiveness and developing targeted treatment strategie
• NCAM1: NCAM1 (Neural Cell Adhesion Molecule 1): NCAM1 is a protein that plays a key role in neural development, particularly in cell-cell adhesion, neurite outgrowth, and synaptic plasticity. It is essential for learning and memory and has been studied in relation to neuropsychiatric disorders such as schizophrenia and autism.
• JAK2: JAK2 (Janus Kinase 2): JAK2 is a gene that encodes a kinase enzyme belonging to the Janus kinase (JAK) family. JAK2 plays a key role in cytokine signaling pathways and is essential for the activation of immune and blood-forming (hematopoietic) cells. Mutations in JAK2 are linked to blood disorders, including polycythemia vera and other myeloproliferative neoplasms.
• CARD9: CARD9 (Caspase Recruitment Domain Family Member 9): CARD9 is a gene that plays a key role in innate immune signaling. It encodes a protein containing 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.
• FSHR: 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 ovari
• CHL1: CHL1 (Cell Adhesion Molecule L1-Like): CHL1 is a cell adhesion molecule involved in the development and function of the nervous system. It plays an important role in neuron migration and synaptic plasticity. Changes in CHL1 have been associated with neurodevelopmental disorders, including autism and intellectual disabilities.
• GCKR: 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.
• MAPT: MAPT (Microtubule Associated Protein Tau): MAPT is a gene that encodes the tau protein, which helps stabilize microtubules in neurons. Abnormal tau aggregation is associated with neurodegenerative diseases such as Alzheimer’s disease and frontotemporal dementia, making MAPT a key focus of research into neuronal health and disease mechanisms.
• NKX2-3: NKX2-3 (NK2 Homeobox 3): NKX2-3 is a gene that encodes a transcription factor important for gastrointestinal development and homeostasis. It helps regulate genes involved in intestinal epithelial cell differentiation and mucosal immunity. Dysregulation of NKX2-3 has been linked to inflammatory bowel diseases.
• PLPPR4: PLPPR4 (Phospholipid Phosphatase-Related Protein 4): PLPPR4 is a gene involved in phospholipid metabolism and signaling pathways. Phospholipids are key components of cell membranes and participate in various cellular functions such as signaling and membrane dynamics. PLPPR4 may help regulate specific phospholipid levels, potentially affecting cell function and membrane properties.
• RNF128: RNF128 (Ring Finger Protein 128): RNF128 is a gene that encodes an E3 ubiquitin-protein ligase involved in the ubiquitin-proteasome system, a key pathway for protein degradation. It plays a role in immune regulation and has been linked to autoimmune diseases. Research on RNF128 helps improve understanding of immune responses and autoimmunity.
• RAP2B: RAP2B (RAP2B, Member of RAS Oncogene Family): RAP2B is a gene belonging to the RAS oncogene family, involved in intracellular signaling pathways that regulate cell proliferation, differentiation, and survival. It also plays a role in cytoskeletal organization and vesicle trafficking. Disruptions in RAP2B signaling may contribute to cancer development.
• PHACTR2: PHACTR2 (Phosphatase and Actin Regulator 2): PHACTR2 (Phosphatase and Actin Regulator 2) is a gene that reflects the regulation of key cellular processes, including cell signaling and cytoskeletal dynamics. It encodes a protein that interacts with protein phosphatase 1 (PP1) and actin, playing a role in the organization of actin filaments and the maintenance of cell shape. PHACTR2 is involved in p
• MACF1: MACF1 (Microtubule-Actin Crosslinking Factor 1): MACF1 is a gene that encodes a cytoskeletal linker protein involved in stabilizing and connecting microtubules and actin filaments. It plays an important role in cell motility, neuronal development, and cellular signaling. Dysfunction in MACF1 is associated with developmental disorders and may contribute to cancer metastasis.
• VCAN: VCAN (Versican): VCAN is a gene that encodes versican, a large proteoglycan found in the extracellular matrix of tissues. Versican is involved in cell adhesion, migration, and tissue development. It plays a role in maintaining tissue structure and may contribute to processes such as wound healing and embryonic development.
• METTL14: METTL14 (Methyltransferase Like 14): METTL14 is a component of the complex responsible for N6-methyladenosine (m6A) RNA modification, a process essential for regulating RNA metabolism and function. Changes in METTL14 activity can influence gene expression and have been linked to the development of certain cancers.
• MTRES1: MTRES1 (Mitochondrial tRNA Editing Site 1): MTRES1 is a gene involved in mitochondrial tRNA (transfer RNA) editing. tRNAs are essential molecules for protein synthesis within mitochondria. MTRES1 likely plays a key role in ensuring the accuracy of mitochondrial protein translation by editing tRNAs.
• FCHO2: FCHO2 (FCH Domain Only 2): FCHO2 is a gene involved in clathrin-mediated endocytosis, a key process for internalizing substances from the cell surface. It plays a role in vesicle formation and intracellular trafficking. Dysregulation of FCHO2 may impact cellular uptake and contribute to various cellular dysfunctions.
• FZD4: 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.
• HNF4A: HNF4A (Hepatocyte Nuclear Factor 4 Alpha): HNF4A is a gene that plays a key role in liver development and function. It encodes a transcription factor responsible for regulating the expression of genes involved in liver formation, glucose metabolism, and lipid metabolism. Mutations in HNF4A can lead to metabolic disorders, including maturity-onset diabetes of the young (MODY).
• SPINK5: SPINK5 (Serine Peptidase Inhibitor, Kazal Type 5) is a gene that encodes a protein responsible for regulating enzyme activity in the skin. This protein helps maintain skin barrier integrity and supports immune defense. Mutations in SPINK5 are linked to Netherton syndrome, a condition marked by skin inflammation, scaling, and increased allergy risk.
• EXTL2: EXTL2 (Exostosin-Like Glycosyltransferase 2) is a gene that encodes an enzyme involved in the production of heparan sulfate, a key component of the extracellular matrix. Heparan sulfate interacts with various growth factors and signaling molecules, playing important roles in cell proliferation, adhesion, and differentiation. EXTL2’s function in heparan sulfate synthesis underscores its importance
• PTGER4: PTGER4 (Prostaglandin E Receptor 4): PTGER4 is a gene that encodes a receptor for prostaglandin E2 (PGE2), a lipid mediator involved in inflammation and immune responses. PTGER4 plays a key role in regulating immune cell activation, cytokine production, and other cellular functions, influencing the body’s inflammatory processes. It has been studied in the context of autoimmune and inflammatory dis
• CTRC: CTRC (Chymotrypsin C) is a gene that encodes an enzyme involved in protein digestion within the pancreas. This enzyme helps regulate digestive processes, and mutations in CTRC have been linked to chronic pancreatitis — a condition marked by persistent inflammation and pancreatic damage. Understanding CTRC is important for studying pancreatic health and related disorders.
• NCR3: NCR3 (Natural Cytotoxicity Triggering Receptor 3): NCR3 is a gene that encodes a receptor found on natural killer (NK) cells and certain T cells. It is involved in identifying and targeting infected or abnormal cells for destruction, playing a key role in the innate immune defense against viruses and tumor cells.
• MUC1: MUC1 (Mucin 1): MUC1 is a gene that encodes a glycoprotein present on the surface of various epithelial cells, including those lining the respiratory and digestive tracts. It plays important roles in protection, lubrication, and cell signaling. Abnormal expression of MUC1 is linked to the development of several cancers.
• VMP1: VMP1 (Vacuole Membrane Protein 1) is a gene involved in autophagy, a key cellular process for breaking down and recycling cellular components. It plays a crucial role in the formation of autophagosomes, which help maintain cellular balance. Dysregulation of VMP1 can disrupt cell homeostasis and has been linked to conditions such as pancreatitis and certain cancers.
• RASEF: 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.
• MFHAS1: MFHAS1 (Malignant Fibrous Histiocytoma Amplified Sequence 1): MFHAS1 is a gene, also known as MASL1, involved in immune regulation and inflammatory processes. It has been linked to malignant fibrous histiocytoma, a rare form of cancer, and is thought to contribute to tumor development and modulation of immune responses.
• SPATA5: SPATA5 (Spermatogenesis-Associated 5) is a gene involved in spermatogenesis, the process of sperm development. It plays a key role in male fertility by supporting proper sperm formation. Mutations in SPATA5 have been linked to fertility problems and male infertility.
• EPS8L3: EPS8L3 (Epidermal Growth Factor Receptor Pathway Substrate 8-Like 3) is a gene linked to the epidermal growth factor receptor (EGFR) signaling pathway, which plays a key role in regulating cell growth, survival, and response to external signals. Its involvement suggests potential roles in cellular communication and cancer development. Further research may clarify its functions and relevance in dis
• FAM160A2: FAM160A2 (Family with Sequence Similarity 160 Member A2) is a gene with currently limited characterized information. While its precise biological role remains unclear, ongoing research aims to uncover its function and potential significance in human health and disease.
• SERAC1: SERAC1 (Serine Active Site Containing 1): SERAC1 is a gene that encodes a protein involved in lipid metabolism and mitochondrial function. It contributes to the synthesis of cardiolipin, a specialized phospholipid critical for mitochondrial membrane integrity and activity. Mutations in SERAC1 can impair cardiolipin production, potentially leading to mitochondrial dysfunction and related disorders.
• KCTD9: 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.
• CSMD1: CSMD1 (CUB and Sushi Multiple Domains 1): CSMD1 is a gene involved in brain development and neural function. It is believed to contribute to immune system regulation and synaptic plasticity. Variations in CSMD1 have been linked to neuropsychiatric conditions, including schizophrenia and cognitive abilities.
• SUGCT: 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.
• BTG1: BTG1 (B-cell Translocation Gene 1): BTG1 is a gene with diverse roles in the cell, primarily involved in regulating the cell cycle and cellular differentiation. It acts as a tumor suppressor gene in certain contexts, helping control cell growth and proliferation. Beyond its tumor-suppressive functions, BTG1 is also involved in various other cellular processes, making it an important focus in cance
• DOCK9: DOCK9 (Dedicator of Cytokinesis 9) is a gene that encodes a guanine nucleotide exchange factor (GEF) protein. GEFs are important regulators that activate Rho family GTPases, which control key cellular processes such as cytoskeletal organization, cell shape, and migration. DOCK9 plays a critical role in influencing cell morphology, adhesion, and movement, making it significant in developmental biol
• GAREM2: GAREM2 (GRB2 Associated Regulator of MAPK1 Subtype 2) is a gene involved in regulating the MAPK/ERK signaling pathway, which is essential for controlling cell growth, differentiation, and survival. It helps mediate cellular responses to external signals such as growth factors and stress. GAREM2 is of particular interest in cancer research, as disruptions in this pathway are commonly linked to tumo
• KATNIP: KATNIP (Katanin Interacting Protein): KATNIP is a gene that encodes a protein involved in regulating the katanin complex, which is responsible for severing microtubules. Through this interaction, KATNIP may influence microtubule dynamics, impacting cell division, movement, and intracellular transport.
• RASSF3: RASSF3 (Ras Association Domain Family Member 3): RASSF3 is a gene that encodes a tumor suppressor protein involved in regulating the cell cycle, apoptosis, and cellular senescence. It acts as a mediator in signaling pathways related to Ras proteins, which are essential for cell growth, differentiation, and survival. RASSF3 also interacts with microtubules and other cellular structures, helping mai
• LANCL1: LANCL1 (LanC Like 1): LANCL1 is a gene that encodes a protein containing LanC (Lantibiotic Synthetase Component C-like) domains. Proteins with these domains are often involved in key cellular processes, including signal transduction, protein-protein interactions, and cellular regulation. The precise functions of LANCL1 are still being studied, and further research is needed to fully understand its
• INAVA: INAVA (Innate Immune Signal Activator): INAVA is a gene involved in regulating the NF-kappaB signaling pathway, a key driver of the body’s innate immune responses. It plays an important role in activating immune cells and promoting the production of inflammatory mediators, helping the body defend against pathogens and manage inflammation.
• TRAPPC9: TRAPPC9 (Trafficking Protein Particle Complex Subunit 9): TRAPPC9 is a gene that encodes a subunit of the trafficking protein particle (TRAPP) complex. This complex plays a key role in vesicle trafficking within cells, supporting the transport of proteins and lipids between cellular compartments. TRAPPC9 is essential for maintaining proper cellular function and organization.
• NFE2: NFE2 (Nuclear Factor, Erythroid 2): NFE2 is a transcription factor that regulates genes involved in erythropoiesis, the production of red blood cells. It plays a key role in the development and maturation of erythroid cells. Changes or mutations in NFE2 can impact red blood cell production and may contribute to blood disorders.
• RBMS3: RBMS3 (RNA Binding Motif, Single-Stranded Interacting Protein 3): RBMS3 is a gene that encodes a protein involved in RNA binding and the regulation of gene expression. This protein plays important roles in cell adhesion and tissue development. Changes in RBMS3 have been associated with several cancers, including gastric and lung cancer.
• CNOT4: CNOT4 (CCR4-NOT Transcription Complex Subunit 4): CNOT4 is a component of the CCR4-NOT complex, which plays a key role in regulating gene expression through mechanisms like mRNA degradation and transcriptional control. This gene is involved in several cellular processes, including immune response and development. Dysregulation of CNOT4 has been linked to cancer and other diseases, emphasizing its
• TRPM8: TRPM8 (Transient Receptor Potential Cation Channel Subfamily M Member 8): TRPM8 is a gene that encodes a calcium channel sensitive to cold temperatures. It is primarily expressed in sensory neurons and plays a key role in the perception of cold and the modulation of pain. Activation of TRPM8 by cold or certain chemicals triggers the sensation of cold.
• SIPA1L3: 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.
• TSKU: TSKU (Tafazzin Knockdown Factor Upstream): TSKU is a gene associated with tafazzin, an enzyme involved in the biosynthesis of cardiolipin, a phospholipid located in the inner mitochondrial membrane. Tafazzin plays a key role in mitochondrial function and energy production. The involvement of TSKU in regulating tafazzin suggests its importance in maintaining mitochondrial membrane integrity.
• HES6: HES6 (Hes Family BHLH Transcription Factor 6): HES6 is a member of the HES family of transcription factors, which play important roles in regulating developmental processes. HES6 primarily functions in neural differentiation and may inhibit other HES proteins to promote the development of neurons. It has been studied in neurodevelopment, with its dysregulation linked to certain neurological disord
• FUT2: FUT2 (Fucosyltransferase 2) is a gene that encodes an enzyme involved in the synthesis of histo-blood group antigens and the determination of secretor status. It catalyzes the transfer of fucose to specific molecules, enabling the production of glycoproteins and glycolipids found in bodily fluids and epithelial tissues. FUT2 activity influences the expression of the H antigen — a key precursor to
• PDSS1: PDSS1 (Prenyl (Decaprenyl) Diphosphate Synthase, Subunit 1): PDSS1 is a protein involved in the production of coenzyme Q10, a vital molecule in the mitochondrial electron transport chain. It plays an essential role in cellular energy generation and antioxidant defense. Dysfunction of PDSS1 can result in coenzyme Q10 deficiency, which may contribute to various neuromuscular and neurodegenerative di
• ABT1: ABT1 (Activator of Basal Transcription 1) is a protein involved in regulating gene expression by initiating transcription. It functions as part of the RNA polymerase I (Pol I) machinery, which transcribes ribosomal RNA (rRNA) genes. ABT1 acts as a transcription factor, binding to specific promoter sequences of rRNA genes and recruiting other transcription factors along with the Pol I complex to fa
• AGPAT5: 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 o
• SLC24A4: SLC24A4 (Solute Carrier Family 24 Member 4) is a gene involved in the transport of calcium and sodium ions, playing a key role in dental enamel formation and pigmentation processes. Variants in SLC24A4 are linked to amelogenesis imperfecta, a condition that affects tooth enamel, and may also contribute to pigmentation-related disorders.
• GZMH: GZMH (Granzyme H): GZMH is a gene that encodes a protease belonging to the granzyme family. These enzymes play a key role in immune responses by helping cytotoxic T cells kill target cells, especially in the defense against viral infections and cancer. The presence of GZMH highlights the complex immune strategies used to fight pathogens and malignant cells.
• CACNA1D: CACNA1D (Calcium Voltage-Gated Channel Subunit Alpha1 D): CACNA1D is a gene that encodes a subunit of the L-type voltage-dependent calcium channel, which is essential for regulating calcium influx in various cell types, especially in muscle and nerve cells. Mutations in this gene have been linked to conditions such as autism spectrum disorders, epilepsy, and certain cardiac dysfunctions.
• PRELID1: PRELID1 (Prelamin A-Related Integral Membrane Protein 1): PRELID1 is a gene involved in nuclear envelope biology. It plays a key role in the processing of prelamin A, the precursor to lamin A, which is an essential structural component of the nuclear envelope. Proper PRELID1 function is critical for maintaining nuclear structure and integrity, and alterations in this gene may affect nuclear organi
• PDGFB: PDGFB (Platelet-Derived Growth Factor Subunit B): PDGFB is a gene that encodes a key growth factor involved in cell signaling and tissue repair. As part of the platelet-derived growth factor (PDGF) family, it plays an essential role in promoting cell proliferation, migration, wound healing, tissue remodeling, and the formation of new blood vessels (angiogenesis).
• JAKMIP2: JAKMIP2 (Janus Kinase And Microtubule Interacting Protein 2): JAKMIP2 is a protein involved in the regulation of Janus kinase (JAK) signaling pathways, which are essential for key cellular processes such as immune function and cell growth. Dysregulation of JAKMIP2 can affect immune responses and may have implications in autoimmune disorders and cancer.
• S1PR4: S1PR4 (Sphingosine-1-Phosphate Receptor 4): S1PR4 is a G protein-coupled receptor for the lipid signaling molecule sphingosine-1-phosphate (S1P). It is primarily expressed in hematopoietic cells and plays a key role in regulating immune cell migration, inflammation, angiogenesis, and endothelial barrier integrity. Alterations in S1PR4 signaling can impact immune responses and contribute to inflamm
• RALGPS2: RALGPS2 (Ras Protein Activator Like GTPase 2): RALGPS2 is a gene that encodes a protein involved in activating Ras GTPases, which are key regulators of cell growth and differentiation. By promoting Ras GTPase activity, RALGPS2 plays a role in cellular signaling pathways that govern essential processes such as cell proliferation and survival.
• PWWP3B: PWWP3B (PWWP Domain Containing 3B): PWWP3B is a gene that encodes a protein involved in chromatin organization and gene regulation. Its PWWP domain suggests a role in epigenetic regulation. Dysfunction in PWWP3B may be linked to developmental disorders and cancers due to its impact on gene expression.
• STAT3: STAT3 (Signal Transducer and Activator of Transcription 3): STAT3 is a key transcription factor that regulates important cellular functions such as cell growth, differentiation, and programmed cell death (apoptosis). It plays a vital role in the immune response and is closely associated with cancer development, where abnormal STAT3 activity is linked to various cancers and other diseases.
• MORC2: MORC2 (Microrchidia 2): MORC2 is a gene that encodes a member of the MORC family of proteins. These proteins are involved in epigenetic regulation, DNA damage repair, and transcriptional control. MORC2 plays diverse roles that can influence multiple cellular processes.
• KNDC1: KNDC1 (Kinase Non-Catalytic C-Lobe Domain Containing 1): KNDC1 is a gene that encodes a protein containing kinase-like domains but lacks enzymatic kinase activity. Although its exact functions are not yet fully understood, KNDC1 is believed to play a role in various cellular processes. Ongoing research aims to clarify its contributions to cell biology and function.
• CDH8: CDH8 (Cadherin 8): CDH8 is a gene that encodes a type of cadherin, a protein essential for cell adhesion. Cadherins play a key role in tissue formation and maintaining cell structure. CDH8 is especially important for nervous system development, contributing to neural connections and brain formation. Variations in CDH8 are linked to neurodevelopmental disorders, highlighting its significance in neu
• IRF8: IRF8 (Interferon Regulatory Factor 8) is a gene that encodes a transcription factor essential for the development and function of immune cells, particularly dendritic cells and macrophages. It helps regulate genes involved in immune responses and antigen presentation. Alterations in IRF8 can affect immune cell differentiation and overall immune function.
• LCT: LCT (Lactase): LCT is a gene that encodes the enzyme lactase, which is essential for digesting lactose in milk. Variants in this gene can affect the body’s ability to break down lactose, potentially leading to lactose intolerance and related gastrointestinal symptoms.
• JUP: JUP (Junction Plakoglobin): JUP is a gene that encodes plakoglobin, a protein found in cell-cell junctions, including desmosomes and adherens junctions. Plakoglobin plays a key role in maintaining the structural integrity of tissues, especially in the skin and heart.
• PPP3CA: PPP3CA (Protein Phosphatase 3 Catalytic Subunit Alpha): PPP3CA is a gene that encodes the catalytic subunit alpha of protein phosphatase 3 (PP3), also known as calcineurin. Calcineurin is a calcium-dependent enzyme involved in signaling pathways that regulate immune responses and various cellular processes, including gene expression. The activity of PPP3CA plays a key role in dephosphorylating tar
• CD151: CD151 (Cluster of Differentiation 151): CD151 is a cell surface protein belonging to the tetraspanin family. It plays an important role in cell adhesion, migration, and signal transduction by interacting with other proteins on the cell membrane. Through these interactions, CD151 helps regulate cellular communication and movement.
• SORCS3: SORCS3 (Sortilin-Related VPS10 Domain Containing Receptor 3) is a protein that belongs to the VPS10 domain-containing receptor family, involved in protein trafficking and sorting within cells. It plays a key role in the nervous system by regulating the movement of proteins important for synaptic function. Changes in SORCS3 activity have been associated with neurological conditions such as Alzheime
• CNTNAP5: CNTNAP5 (Contactin-Associated Protein-Like 5) is a gene that encodes a protein belonging to the contactin-associated protein (CASPR) family. These proteins play important roles in neural development by helping form specialized connections between nerve cells. CNTNAP5 is believed to contribute to the organization of neural circuits and proper synaptic function in the nervous system.
• CPXM1: CPXM1 (Carboxypeptidase X, M14 Family Member 1): CPXM1 is a protein that belongs to the metallo-carboxypeptidase family and is involved in extracellular matrix remodeling. It contributes to cell adhesion, migration, and key physiological processes such as wound healing and inflammation. Dysregulation of CPXM1 may be linked to tissue remodeling disorders and certain cancers.
• SULT2A1: SULT2A1 (Sulfotransferase Family 2A Member 1): SULT2A1 is a gene that encodes an enzyme from the sulfotransferase family. This enzyme is responsible for sulfating a variety of compounds, including hormones, drugs, and xenobiotics. The sulfation reactions catalyzed by SULT2A1 are essential for metabolizing and eliminating these substances, playing a key role in the body’s detoxification processes.
• DAP: Death-Associated Protein (DAP) is a key regulator of cell death, playing an important role in apoptosis — the programmed cell death process. This mechanism is essential for maintaining healthy cells and preventing diseases like cancer. Understanding DAP’s function is crucial for studying the cell life cycle and developing treatments for conditions where cell death regulation is impaired.
• CXCR4: CXCR4 (C-X-C Motif Chemokine Receptor 4) is a gene that encodes a receptor involved in immune system regulation and cell movement. This receptor binds to its ligand, CXCL12, playing a key role in directing the migration and trafficking of immune cells. CXCR4 is essential for proper immune function and is linked to several diseases, including cancer and HIV infection.
• MAML3: MAML3 (Mastermind-Like Transcriptional Coactivator 3): MAML3 is a gene that reflects its role in transcriptional coactivation. It interacts with multiple transcription factors to enhance their activity, thereby influencing gene expression patterns. MAML3 is important for transcriptional regulation and is implicated in developmental processes and cell differentiation.
• GBE1: GBE1 (Glycogen Branching Enzyme 1): GBE1 is an enzyme essential for glycogen synthesis, a critical process in energy metabolism. It facilitates the formation of glycogen’s branched structure. Mutations in GBE1 can cause glycogen storage disease type IV, leading to abnormal glycogen accumulation in cells and affecting liver and muscle function.
• SORCS2: SORCS2 (Sortilin-Related VPS10 Domain Containing Receptor 2): SORCS2 is a receptor involved in neuronal development and signaling. As a member of the VPS10 domain-containing receptor family, it plays important roles in neurotrophic signaling and neural plasticity. Dysregulation of SORCS2 has been associated with neurological disorders such as Alzheimer’s disease and schizophrenia.
• JCAD: JCAD (Junctional Cadherin 5 Associated): JCAD is a protein that plays a key role in cell adhesion and vascular development. It is important for endothelial cell function and maintaining vascular integrity. Alterations in JCAD have been linked to cardiovascular diseases and may also influence tumor angiogenesis, highlighting its significance in both cardiovascular research and oncology.
• FUT3: FUT3 (Fucosyltransferase 3): FUT3 is a gene that encodes an enzyme involved in the synthesis of Lewis blood group antigens. These antigens appear on the surface of red blood cells and mucosal epithelial cells, where they play roles in cell adhesion and signaling.
• MGA: MGA (MAX Gene Associated): MGA is a large transcription factor involved in regulating cell growth and division. It plays a key role within a network of genes that control the cell cycle and has been linked to the development of certain cancers, due to its interactions with oncogenes and tumor suppressor genes.
• LY6K: 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.
• CWF19L2: CWF19L2 (Cell Cycle and WD Repeat Domain-Containing Protein 19-Like 2) is a gene that encodes a protein with WD repeat domains, which are known for facilitating protein-protein interactions. While its exact function is not fully understood, it is believed to play a role in cellular signaling or regulatory processes, with ongoing research aimed at clarifying its specific contributions.
• CRTC3: CRTC3 (CREB Regulated Transcription Coactivator 3): CRTC3 is a gene that encodes a coactivator protein involved in transcriptional regulation. It works by interacting with CREB (cAMP response element-binding protein) to modulate gene expression in response to different signaling pathways. CRTC3 plays important roles in maintaining cellular energy balance, metabolism, and glucose homeostasis.
• FZD1: FZD1 (Frizzled Class Receptor 1): FZD1 is a member of the frizzled receptor family, which are key components of the Wnt signaling pathway. This pathway plays a central role in development, tissue regeneration, and cancer progression. As a Wnt receptor, FZD1 helps regulate cellular responses to Wnt ligands, influencing important biological processes and holding potential implications in disease mec
• PSCA: PSCA (Prostate Stem Cell Antigen): PSCA is a cell surface protein found in certain tissues, including the prostate. It has been studied for its potential role in prostate cancer, where it may function as a biomarker and a possible target for therapy.
• GP2: GP2 (Glycoprotein 2): GP2 is a gene that encodes a membrane-bound protein mainly found in the pancreas and involved in immune responses within the gastrointestinal tract. It plays a role in binding and aggregating bacteria, helping to protect the gut from microbial invasion. Changes in GP2 are studied for their potential links to pancreatic disorders and inflammatory bowel diseases.
• RHBDD3: RHBDD3 (Rhomboid 5 Homolog 3): RHBDD3 is a gene that encodes a protein belonging to the rhomboid family, which is involved in cellular processes such as signal transduction and protein trafficking. While its specific functions are still being explored, RHBDD3 may play a role in cell signaling and cancer biology.
• PDE5A: PDE5A (Phosphodiesterase 5A): PDE5A is a gene that encodes an enzyme specifically targeting cyclic GMP (cGMP), a key second messenger in various biological processes. PDE5A plays an important role in regulating vascular smooth muscle, and its inhibitors are commonly used to treat erectile dysfunction and pulmonary hypertension. Research on PDE5A is significant for cardiovascular and urogenital hea
• CNTN5: CNTN5 (Contactin 5): CNTN5 is a member of the contactin family, involved in the development of the nervous system, especially in the formation of neural connections. It plays a key role in neuronal development and function. Mutations in CNTN5 have been associated with neurodevelopmental disorders, including autism spectrum disorders and intellectual disabilities.
• TRIM37: TRIM37 (Tripartite Motif Containing 37): TRIM37 is a gene that encodes a protein with E3 ubiquitin ligase activity, playing a key role in protein degradation. It has been associated with Mulibrey nanism, a rare growth disorder. Studying TRIM37 is important for understanding growth and developmental disorders as well as the function of the ubiquitin-proteasome system.
• FBXO21: FBXO21 (F-Box Protein 21): FBXO21 is a gene that encodes a protein belonging to the F-box family, which plays a key role in the ubiquitin-proteasome system responsible for protein degradation. It is involved in regulating important cellular processes like the cell cycle and signal transduction. Dysregulation of FBXO21 can affect protein homeostasis and is relevant in diseases characterized by disr
• GUCY2F: GUCY2F (Guanylate Cyclase 2F): GUCY2F is a gene that encodes guanylate cyclase, an enzyme responsible for regulating cyclic GMP (cGMP) levels within cells. It plays a key role in signal transduction and is especially important in sensory neurons, including the photoreceptor cells of the retina.
• HPCAL1: HPCAL1 (Hippocalcin Like 1): HPCAL1 is a calcium-binding protein similar to hippocalcin. It is involved in neuronal activity and plasticity by participating in calcium signaling pathways within nerve cells. These pathways are essential for memory and learning processes. Dysfunctions in HPCAL1 have been linked to neurological disorders, especially those affecting cognitive function.
• STK32A: STK32A (Serine/Threonine Kinase 32A): STK32A is a gene that encodes a serine/threonine kinase — an enzyme that modifies proteins by adding phosphate groups. Such kinases are involved in key cellular processes, including signaling, cell cycle regulation, and apoptosis. The precise functions of STK32A are still under investigation, with research exploring its role in cell regulation and potential li
• C6ORF47: C6ORF47 (Chromosome 6 Open Reading Frame 47): C6ORF47 is a gene located on chromosome 6 that is relatively less characterized. As an open reading frame, it may encode a protein, though its precise functions remain unclear. Research on C6ORF47 may reveal new insights into cellular processes and help expand our understanding of the human genome.
• ABCB4: ABCB4 (ATP Binding Cassette Subfamily B Member 4) is a gene that encodes a transporter protein responsible for moving phospholipids from liver cells into bile. This function is essential for maintaining healthy bile composition and protecting the liver from toxic buildup. Mutations in ABCB4 can disrupt this process and are linked to liver disorders such as cholelithiasis.
• KRT73: KRT73 (Keratin 73): KRT73 is a gene that encodes a type of keratin protein essential for the structural integrity of hair and nails. Keratin 73 plays a key role in forming the hair shaft. Changes or mutations in this gene can affect hair texture and strength, leading to various hair disorders. Research on KRT73 helps improve understanding of hair biology and potential therapies for hair-related co
• STK17A: STK17A (Serine/Threonine Kinase 17A): STK17A is a gene that encodes a protein kinase involved in regulating cell death (apoptosis) and cell survival. It plays a role in cellular responses to stress and DNA damage. Dysregulation of STK17A may affect cell survival and contribute to disease development, including cancer.
• SESN3: SESN3 (Sestrin 3): SESN3 is a member of the sestrin family of stress-responsive proteins. It is involved in regulating cell growth and metabolism, particularly under conditions of cellular stress. SESN3 also contributes to antioxidant defense and has been associated with metabolic regulation, with potential implications for conditions such as obesity and diabetes.
• UGT1A6: UGT1A6 (UDP Glucuronosyltransferase Family 1 Member A6): is a gene that encodes an enzyme from the UDP glucuronosyltransferase family. This enzyme plays a vital role in phase II metabolism by facilitating the conjugation of drugs, toxins, and endogenous substances with glucuronic acid, helping to eliminate them from the body. UGT1A6 is essential for detoxification and maintaining overall metabolic
• CEP63: CEP63 (Centrosomal Protein 63): CEP63 is a protein essential for centrosome duplication, a critical step in cell division. It helps maintain the accuracy of cell division and participates in cellular responses to DNA damage. Mutations in CEP63 are linked to microcephaly and other developmental disorders, underscoring its role in cell cycle regulation and development.
• BRSK2: BRSK2 (BR Serine/Threonine Kinase 2): BRSK2 is a member of the AMP-activated protein kinase family, involved in neuronal development and polarization. It plays a key role in synaptic plasticity and the maturation of neurons. Changes or mutations in BRSK2 have been linked to neurological disorders and may contribute to neurodevelopmental diseases.
• ANGPTL4: ANGPTL4 (Angiopoietin-Like 4): ANGPTL4 is a multifunctional protein that plays key roles in regulating lipid metabolism, blood vessel formation (angiogenesis), and inflammation. It influences these processes by inhibiting lipoprotein lipase (LPL) activity, which raises plasma triglyceride levels, and by limiting endothelial cell migration and tube formation, affecting vascular growth and remodelin
• RADX: RADX (RADX DNA Repair Helicase): RADX is a protein that plays a key role in DNA repair, particularly in preserving genomic stability during DNA replication. It is involved in the cellular response to DNA damage and helps prevent genomic instability — a major contributor to cancer development. RADX is an important focus in understanding DNA repair mechanisms and advancing cancer research.
• NUP62CL: NUP62CL (Nucleoporin 62 C-Terminal Like): NUP62CL is a gene that encodes a component of the nuclear pore complex — a key structure in the nuclear envelope that controls the movement of molecules between the nucleus and cytoplasm. Changes in NUP62CL can disrupt nuclear transport and may be linked to neurodegenerative disorders and certain cancers.
• ETS2: ETS2 (ETS Proto-Oncogene 2, Transcription Factor): ETS2 is a gene that encodes a transcription factor from the ETS family. Transcription factors like ETS2 regulate the expression of specific target genes by binding to particular DNA sequences. ETS2 plays important roles in cellular processes such as cell proliferation, differentiation, and development. Dysregulation of ETS2 has been linked to canc
• AKR1E2: AKR1E2 (Aldo-Keto Reductase Family 1 Member E2): AKR1E2 is part of the aldo-keto reductase (AKR) family, a group of enzymes involved in the detoxification of aldehydes and ketones. While the specific function of AKR1E2 is not fully understood, members of this family play important roles in metabolism and the cellular response to oxidative stress. Studying AKR1E2 may provide insights into metabolic
• CALM1: CALM1 (Calmodulin 1): CALM1 encodes calmodulin, a calcium-binding protein that plays a central role in calcium signaling. Calmodulin interacts with various target proteins, regulating their activity based on changes in intracellular calcium levels. CALM1 is essential for many cellular processes, including muscle contraction, neurotransmitter release, and cell growth.
• LTBR: LTBR (Lymphotoxin B Receptor): LTBR is a protein essential for the development and organization of lymphoid tissues. It plays a key role in immune responses, especially in the formation of lymph nodes and secondary lymphoid organs. Abnormalities in LTBR function are associated with autoimmune diseases and immune system disorders, making it an important focus in immunological research.
• NECTIN2: NECTIN2 (Nectin Cell Adhesion Molecule 2): NECTIN2, also known as CD112, is a transmembrane protein in the nectin family that mediates cell-cell adhesion. It is mainly expressed in epithelial and neuronal tissues and interacts with other nectins and receptors like DNAM-1 (CD226), CD96, and TIGIT. NECTIN2 plays a key role in forming and maintaining adherens junctions and synaptic connections, influ
• SEC62: SEC62 (SEC62 Homolog, Preprotein Translocation Factor): SEC62 is a gene involved in protein translocation into the endoplasmic reticulum (ER). It plays a role in importing proteins into the ER lumen, supporting proper folding and processing of secretory and membrane proteins.
• TBC1D8B: TBC1D8B (TBC1 Domain Family Member 8B): TBC1D8B is a member of the TBC1 domain family, known for their role in intracellular trafficking and signaling. This gene is involved in regulating membrane trafficking and plays a part in cellular transport processes. Studying TBC1D8B can provide insights into cellular homeostasis and diseases associated with intracellular transport dysfunction.

How to prepare

24 hours before: Avoid alcohol, caffeine, nicotine, and intense exercise. 30 minutes before: Don’t brush teeth, drink, eat, smoke or chew gum.

Frequently asked questions

How does it work? / When do I get my results?

1. Order and receive your kit. 2. Perform the test. 3. Send a sample at the beginning of the week (to avoid delays). 4. Results digitally in 3-5 weeks.

Does this test analyze my gut microbiome?

This test focuses on your genetic likelihood for gut health factors, rather than measuring your current microbiome. It analyzes factors that influence gut health, such as digestion, microbiome balance, and inflammation. This helps you understand how your body is naturally predisposed and where you may benefit from targeted support.

Can I receive the raw data from my test?

No. We provide your results in a comprehensive report with the relevant values and interpretations. We do not provide the raw laboratory data.

Customer reviews

4.6/5 (5)

• 4/5 — Good information, though 8 weeks was a long time to wait for the lab results. Clear instructions provided.
• 5/5 — Finally understand my genetic predisposition to bloating.
• 4/5 — Straightforward kit and the prepaid shipping made it very convenient.
• 5/5 — Super easy saliva collection and registration process.
• 5/5 — The report gave me a lot to think about regarding my family history of reflux. Worth the wait.