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The AGT gene plays a vital role in controlling blood pressure and maintaining the body’s fluid balance. Variations or mutations in the AGT gene can influence the risk of developing hypertension and other cardiovascular diseases. Understanding the function of AGT is essential for managing these health conditions.

ADAMTS18 is a gene that encodes an enzyme involved in the processing of extracellular matrix components. This enzyme plays a crucial role in tissue development and maintenance. Mutations in ADAMTS18 have been linked to abnormalities in the eyes, skin, and skeleton.

ADAMTS18

SOX4 (SRY-Box Transcription Factor 4) is a transcription factor involved in regulating embryonic development and determining cell fate. It plays essential roles in the development of the heart, pancreas, and lymphocytes. SOX4 also influences cancer progression by regulating cell growth, programmed cell death, and metastasis, highlighting its importance in both development and tumorigenesis.

SOX4

VPS37B is a gene that encodes a protein involved in the endosomal sorting complex required for transport (ESCRT) machinery. It plays a crucial role in intracellular membrane trafficking and protein sorting, especially in the formation of multivesicular bodies (MVBs). By helping to direct ubiquitinated proteins toward lysosomal degradation, VPS37B helps maintain cellular homeostasis and regulate signal transduction pathways.

VPS37B

C11ORF21 (Chromosome 11 Open Reading Frame 21) is a gene with a currently unclear or uncharacterized biological function. Although it has been identified through genomic studies, its specific role in cellular activity and potential links to health or disease are still being investigated as part of ongoing research in human genetics.

C11ORF21

PATJ (Pals1-Associated Tight Junction Protein) is a protein associated with tight junctions, which are crucial structures for maintaining the integrity of epithelial and endothelial cell layers. PATJ plays a vital role in establishing cell polarity and forming cell-to-cell junctions. It is essential for preserving tissue barrier function.

PATJ

FDX1 (Ferredoxin 1) is a mitochondrial protein involved in electron transport, playing a key role in various metabolic pathways such as steroid hormone synthesis and cellular detoxification. It also contributes to the formation of iron-sulfur clusters — essential cofactors for numerous enzymes. Disruptions in FDX1 function can affect energy production and have been linked to mitochondrial-related diseases.

FDX1

AGMO (Alkylglycerol Monooxygenase) is a gene that encodes an enzyme involved in lipid metabolism, specifically in the breakdown of ether lipids. This enzyme plays a role in regulating bioactive lipids, which affect cell signaling and inflammatory responses. Changes in AGMO activity may be associated with lipid-related disorders and inflammatory conditions.

AGMO

GPSM1 (G Protein Signaling Modulator 1) is a gene that regulates G protein signaling pathways, which are crucial for cellular responses to external signals. It is involved in cell polarization and directional movement. GPSM1 has been researched for its potential role in cancer, especially in tumor cell migration and invasion.

GPSM1

DLG5 (Discs Large Homolog 5) is a protein that belongs to the Discs Large (DLG) family, involved in organizing cellular structures and facilitating signal transmission at cell junctions. It plays a key role in maintaining the integrity of epithelial cells and may be associated with conditions such as inflammatory bowel diseases (IBD), including Crohn’s disease.

DLG5

ARL4A (ADP-Ribosylation Factor-Like 4A) is a protein in the ADP-ribosylation factor (ARF) family of small GTPases. It plays a key role in regulating intracellular vesicle trafficking and membrane dynamics. ARL4A is involved in processes such as membrane remodeling, vesicle formation, and membrane fusion within cells.

ARL4A

ATP2B2 (ATPase Plasma Membrane Ca²⁺ Transporting 2) is a gene that encodes a calcium pump responsible for regulating intracellular calcium levels. This pump plays a crucial role in various cellular processes such as signal transduction, muscle contraction, and neurotransmitter release. Mutations in ATP2B2 have been linked to hearing loss and vestibular disorders, underscoring its importance in maintaining calcium balance within sensory hair cells essential for hearing and balance.

ATP2B2

ADAM15 (A Disintegrin and Metalloproteinase 15) is a member of the ADAM protein family, which is involved in cell adhesion, migration, and the proteolysis of extracellular matrix proteins. ADAM15 plays important roles in cell signaling and tissue remodeling processes.

ADAM15

NADSYN1 (NAD Synthetase 1): NADSYN1 is a gene involved in the synthesis of NAD (nicotinamide adenine dinucleotide), a vital coenzyme in redox reactions. NADSYN1 plays a critical role in various metabolic processes, and its function is increasingly recognized in connection with aging, cell death, and certain chronic diseases.

NADSYN1

PIGN (Phosphatidylinositol Glycan Anchor Biosynthesis Class N) is a gene involved in the production of glycosylphosphatidylinositol (GPI) anchors, which attach specific proteins to the cell membrane. These GPI-anchored proteins are essential for processes such as cell adhesion, signal transmission, and immune system function. Mutations in PIGN can disrupt GPI anchor formation, leading to disorders characterized by developmental delays, neurological issues, and congenital abnormalities.

PIGN

BBX (Bobby Sox Homolog) is a transcriptional regulator that helps control cell proliferation and differentiation. It plays an important role in embryonic development and is involved in regulating circadian rhythms. Proper BBX function is essential for normal development and maintaining regular biological cycles.

SSBP3 (Single Stranded DNA Binding Protein 3) is a protein that specifically binds to single-stranded DNA. It plays a vital role in DNA repair and replication, helping to maintain genomic stability. By supporting the cell’s response to DNA damage, SSBP3 is essential for proper cellular function and holds potential significance in cancer biology.

SSBP3

ARL4C (ADP Ribosylation Factor Like GTPase 4C) is a member of the ADP-ribosylation factor family of GTP-binding proteins. It plays a role in cellular signaling and membrane trafficking, contributing significantly to cytoskeletal organization and cell movement. ARL4C expression has also been linked to the development and progression of certain cancers.

ARL4C

SLC2A9 (Solute Carrier Family 2 Member 9) is a gene that encodes a transporter protein responsible for moving urate in the kidneys. This protein plays a key role in regulating uric acid levels in the blood and is associated with the risk of developing gout.

SLC2A9

BCAT1 (Branched Chain Amino Acid Transaminase 1) is a crucial enzyme that helps regulate the metabolism of branched-chain amino acids (BCAAs) — leucine, isoleucine, and valine. It primarily functions in the cytosol of brain tissues and certain tumors, where it catalyzes the reversible conversion of BCAAs into their α-keto acids, initiating their breakdown process. BCAT1 plays a key role in maintaining nitrogen balance and supporting neurotransmitter production, which impacts brain function and development. Additionally, BCAT1 is involved in cancer cell growth and metabolism, making it a potential biomarker for certain cancers.

BCAT1

EGR2 (Early Growth Response 2) is a transcription factor that plays a crucial role in regulating the development of the nervous and immune systems. It is especially important for myelination in the peripheral nervous system and helps control cell growth and differentiation. Mutations in EGR2 are associated with Charcot-Marie-Tooth disease and related neuropathies, highlighting its vital role in neural development and function.

EGR2

SLC35F1 (Solute Carrier Family 35 Member F1) is a gene that encodes a protein responsible for transporting nucleotide sugars across cell membranes. These sugars are crucial for glycosylation — an essential process that modifies proteins, impacting their folding, stability, and function. By facilitating proper glycosylation, SLC35F1 plays a key role in sustaining cellular function, immune response, and may influence disease mechanisms such as cancer.

SLC35F1

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.

HTR2C (5-Hydroxytryptamine Receptor 2C): HTR2C is a serotonin receptor subtype implicated in the regulation of mood, appetite, and sexual behavior. It plays a role in various CNS functions and is a target for certain psychiatric medications. Dysfunctions or genetic variations in HTR2C have been linked to psychiatric conditions, including depression, anxiety, and schizophrenia, as well as to metabolic disorders....

HTR2C

PLAUR (Plasminogen Activator, Urokinase Receptor) is a gene that encodes a receptor involved in proteolysis and cell movement. It supports tissue remodeling and wound healing by assisting in the conversion of plasminogen to plasmin, an enzyme that breaks down fibrin and components of the extracellular matrix. Elevated levels of PLAUR have been linked to tumor growth and metastasis, emphasizing its role in cancer progression and its potential as a therapeutic target.

PLAUR

ALG13 is a gene that encodes a key subunit of the UDP-N-acetylglucosaminyltransferase complex, which is involved in the early stages of glycosylation. Glycosylation is an essential cellular process where carbohydrates are attached to proteins or lipids, influencing their folding, stability, and function. ALG13 plays a vital role in synthesizing the glycan precursor needed for proper protein glycosylation within the endoplasmic reticulum. Mutations in ALG13 are associated with congenital disorders of glycosylation, leading to various clinical issues such as developmental delays, epilepsy, and metabolic problems.

ALG13

EIF4G3 (Eukaryotic Translation Initiation Factor 4 Gamma 3) is a gene that encodes a crucial component of the eIF4F complex, which participates in the initiation of protein synthesis. It plays a key role in recruiting ribosomes to mRNA, allowing for efficient translation and protein production. Proper function of EIF4G3 is essential for cell growth and differentiation, while its dysregulation may contribute to diseases such as cancer, where protein synthesis is frequently altered.

EIF4G3

BTN3A2 (Butyrophilin Subfamily 3 Member A2) is a protein that belongs to the butyrophilin family, playing a crucial role in regulating immune responses. BTN3A2 is involved in the activation and differentiation of T cells, which are key players in the body’s immune defense. It contributes to immune surveillance and has been associated with autoimmune diseases and cancer.

BTN3A2

SHISA4 (Shisa Family Member 4) is a protein involved in regulating synaptic function and neuronal excitability. It modulates the activity of key receptors in the central nervous system, including AMPA and NMDA receptors, playing a crucial role in neuronal signaling and synaptic plasticity. Due to its role in synaptic modulation, SHISA4 is a focus of research on neurological disorders and synaptic dysfunction.

SHISA4

C10ORF67 (Chromosome 10 Open Reading Frame 67), also known as SASP, is a gene involved in regulating cell proliferation and migration. While its exact molecular function remains unclear, it is linked to signaling pathways that influence cellular senescence and the senescence-associated secretory phenotype (SASP). This connection highlights its potential importance in aging, cancer development, and tissue regeneration.

C10ORF67

EDAR (Ectodysplasin A Receptor) is a receptor that plays a crucial role in the development of skin appendages such as hair, teeth, and sweat glands. Proper functioning of EDAR is essential for the formation of these structures, and mutations in this gene can cause ectodermal dysplasias, a group of disorders characterized by abnormal development of these features.

EDAR

DCAF4 (DDB1 And CUL4 Associated Factor 4) is a critical component of the CUL4-DDB1 ubiquitin ligase complex, which tags proteins for degradation via ubiquitination. This process is vital for regulating protein levels, maintaining cellular homeostasis, and managing stress responses. DCAF4 helps determine the proteins targeted, playing key roles in cell cycle regulation, DNA repair, and signal transduction. Disruptions in DCAF4 function can cause cellular imbalances and have been linked to cancer and other diseases, highlighting its significance in proteostasis and cellular health.

DCAF4

AP2A2 (Adaptor-Related Protein Complex 2 Alpha 2 Subunit) is a crucial component of the AP-2 adaptor complex, which plays an essential role in clathrin-mediated endocytosis. This process is vital for the internalization of receptors and proteins into cells, affecting cell signaling and nutrient uptake. Dysregulation of AP2A2 can impair neuronal development and synaptic function, potentially contributing to neurological disorders.

AP2A2

ABCA6 (ATP-Binding Cassette Subfamily A Member 6) is a protein that is part of the ATP-binding cassette (ABC) transporter family. It plays a crucial role in transporting lipids across cell membranes, aiding lipid metabolism and maintaining cellular lipid balance.

ABCA6

GADL1 (Glutamate Decarboxylase Like 1) is a protein related to glutamate decarboxylases, enzymes involved in producing the neurotransmitter GABA. Although its exact function is not yet fully understood, GADL1 is believed to play a role in amino acid metabolism and neurotransmitter synthesis. It is being studied for its potential involvement in neurological function and associated disorders.

GADL1

HP1BP3 (Heterochromatin Protein 1 Binding Protein 3) is a gene that encodes a protein involved in chromatin structure and gene regulation. It interacts with components of heterochromatin, playing a role in genomic stability, DNA repair, and gene silencing. HP1BP3 may influence cellular differentiation and has potential implications in diseases such as cancer, where these processes are often disrupted.

HP1BP3

DTWD2 (DTW Domain Containing 2) is a gene believed to be involved in protein ubiquitination, a process essential for protein degradation and regulation within the cell. Although it is less well understood, DTWD2 likely plays a role in maintaining cellular protein quality control and may affect key functions such as cell cycle regulation and the stress response.

DTWD2

AHI1 (Abelson Helper Integration Site 1) is a gene involved in ciliogenesis and cellular signaling, essential for proper brain development and function. Mutations in AHI1 are linked to Joubert syndrome — a rare genetic disorder characterized by developmental delays, cerebellar malformations, and neurological impairments.

AHI1

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

ABCC5 (ATP-binding cassette subfamily C member 5) is a protein that acts as a cellular transporter, moving various molecules out of cells. It is part of the ATP-binding cassette (ABC) transporter superfamily and contributes to drug resistance, especially in cancer. Understanding the activity of ABCC5 is crucial for enhancing chemotherapy effectiveness and developing targeted treatment strategies.

ABCC5

ABCG2 (ATP-Binding Cassette Subfamily G Member 2) is a protein that acts as a cellular transporter, moving various molecules — including drugs, toxins, and metabolites — out of cells. As part of the ATP-binding cassette (ABC) transporter family, it plays a crucial role in protecting tissues from harmful substances and contributes to drug resistance.

ABCG2

DLEU7 (Deleted in Lymphocytic Leukemia 7) is a gene recognized for its potential role in cancer biology, especially in chronic lymphocytic leukemia (CLL). It is thought to affect key processes such as cell cycle regulation and programmed cell death (apoptosis). Loss or dysfunction of DLEU7 may contribute to cancer development and progression, making it a key focus in research for new diagnostic markers and targeted therapies.

DLEU7

ADGRL3 (Adhesion G Protein-Coupled Receptor L3) is a gene that encodes a protein belonging to the adhesion G protein-coupled receptor family, which enables cell-to-cell communication and supports the development and function of the nervous system. It plays a crucial role in brain formation, neuronal signaling, and maintaining neural connectivity. Variations in ADGRL3 have been linked to neurological disorders, including attention deficit hyperactivity disorder (ADHD).

ADGRL3

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

CYP4V2 (Cytochrome P450 Family 4 Subfamily V Member 2) is an enzyme involved in fatty acid and lipid metabolism, including the formation of fatty acid epoxides that play a role in regulating blood pressure and controlling inflammation. Variants of CYP4V2 are associated with Bietti’s crystalline dystrophy, a rare retinal condition that can lead to progressive vision loss, highlighting its significance in both lipid metabolism and eye health.

CYP4V2

DAAM2 (Dishevelled Associated Activator of Morphogenesis 2) is a protein that regulates cytoskeletal organization and cell shape. It plays a key role in processes such as cell movement, tissue development, and morphogenesis.

DAAM2

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

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

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

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

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

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

GRIN3A (Glutamate Ionotropic Receptor NMDA Type Subunit 3A) is a gene that encodes a subunit of the NMDA receptor, which belongs to the glutamate receptor family. NMDA receptors are crucial for synaptic plasticity, learning, and memory, serving a key role in neuronal communication. Variations in GRIN3A can affect brain function and are of interest in neurological research.

GRIN3A

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

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

SIVA1 (SIVA1 Apoptosis-Inducing Factor) is a protein involved in regulating programmed cell death, or apoptosis. It plays a role in managing cell survival and death pathways, helping to maintain the balance between healthy cell function and the removal of damaged cells. Research on SIVA1 aims to understand its effects on cell fate and its potential connections to various diseases.

SIVA1

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

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

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

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

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

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

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

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

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

MMUT

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

SPATA32 (Spermatogenesis Associated 32) is a gene primarily expressed in the testis and is believed to play a role in the process of spermatogenesis. Although its exact function in male reproductive health and fertility is not yet fully understood, SPATA32 is considered significant for research in reproductive biology and fertility.

SPATA32

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.

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

DCDC2B

ADAMTSL3 (ADAMTS-Like 3) is a gene that encodes a protein belonging to the ADAMTS family, which is involved in organizing the extracellular matrix and regulating cell-matrix interactions. This protein plays a role in maintaining connective tissue structure and has been linked to lung and eye development, as well as certain connective tissue disorders.

ADAMTSL3

FZD4 (Frizzled Class Receptor 4) is a gene that encodes a receptor involved in the Wnt signaling pathway. This pathway is essential for embryonic development, tissue maintenance, and stem cell regulation. FZD4 helps regulate cell growth and differentiation, playing a key role in tissue regeneration and determining cell fate.

FZD4

D2HGDH (D-2-Hydroxyglutarate Dehydrogenase) is a mitochondrial enzyme involved in the metabolism of D-2-hydroxyglutarate, a cellular byproduct. It helps prevent the harmful accumulation of this compound. Dysfunction of D2HGDH is associated with D-2-hydroxyglutaric aciduria, a disorder linked to symptoms such as developmental delays, epilepsy, and heart conditions.

D2HGDH

XKR6 (XK Related 6) is a gene that encodes a protein from the XK family, which may be involved in transmembrane transport. While its precise function is not yet fully understood, XKR6 might play a role in cellular processes important to human health.

XKR6

ADAMTS10 (A Disintegrin and Metalloproteinase with Thrombospondin Motifs 10) is a gene that encodes a protein involved in remodeling the extracellular matrix, particularly in connective tissues. It plays a crucial role in tissue development and repair, especially within cartilage and bone. Variants of ADAMTS10 have been associated with connective tissue disorders and skeletal abnormalities.

ADAMTS10

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

ATP2B4

ADAM10 (A Disintegrin and Metalloproteinase 10) is a protein that serves as a transmembrane protease, playing a role in regulating cell adhesion, migration, and signaling. It operates by cleaving the extracellular portions of various cell surface proteins, including growth factors and receptors, impacting key pathways such as Notch and cadherin signaling. ADAM10 is essential for tissue development, cell communication, and nervous system function.

ADAM10

CSF3R (Colony Stimulating Factor 3 Receptor) is a receptor that binds to colony-stimulating factor 3 (CSF3), a cytokine responsible for regulating the production, differentiation, and function of granulocytes. This interaction is crucial for the survival and activation of neutrophils, which are key cells in the body’s innate immune defense. Alterations in CSF3R, such as mutations or overexpression, can disrupt granulocyte function and proliferation, contributing to conditions like chronic neutrophilic leukemia and severe congenital neutropenias.

CSF3R

FN3KRP (Fructosamine 3 Kinase-Related Protein) is a protein involved in fructosamine metabolism and may help regulate glucose levels in the body. It is related to the enzyme fructosamine 3 kinase and may influence glycation processes, which are linked to the formation of advanced glycation end-products (AGEs) that affect diabetes and aging-related conditions.

FN3KRP

FADS2 (Fatty Acid Desaturase 2) is an enzyme that plays a crucial role in the production of polyunsaturated fatty acids — essential components of cell membranes and precursors to key signaling molecules. Variations in FADS2 activity can affect how the body metabolizes essential fatty acids and are linked to metabolic and inflammatory health outcomes.

FADS2

SIPA1L3 (Signal-Induced Proliferation-Associated 1 Like 3) is a gene involved in signal transduction and cell growth. It plays a key role in the nervous system by supporting synaptic function and neuronal communication. Alterations in SIPA1L3 may impact brain development and cognitive function, potentially contributing to neurological disorders.

SIPA1L3

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

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

WNK1

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

B4GALT6

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

BTBD7

ADARB1 (Adenosine Deaminase RNA-Specific B1) is a gene that encodes an enzyme involved in RNA editing—a process that modifies RNA molecules after transcription. This editing can impact RNA stability, function, and gene expression. ADARB1 plays a critical role in brain function and has been associated with the regulation of neural activity and neurological disorders.

ADARB1

SPPL3 (Signal Peptide Peptidase-Like 3) is an enzyme belonging to the intramembrane-cleaving protease family that processes specific transmembrane proteins. By releasing intracellular domains from its substrates, SPPL3 affects cellular signaling and regulation. It plays a crucial role in immune system function, including B cell maturation, and has been associated with certain autoimmune diseases. Research on SPPL3 helps to uncover how intramembrane proteolysis influences human health and disease.

SPPL3

DBX1 (Developing Brain Homeobox 1) is a transcription factor that plays a crucial role in the development of the spinal cord and nervous system. It is vital for directing the differentiation of neural progenitor cells and ensuring the proper formation of neural structures during early development.

DBX1

ENOX1 (Ecto-NOX Disulfide-Thiol Exchanger 1) is a protein that facilitates electron transfer across the cell membrane, contributing to cellular redox balance. It is associated with the regulation of cell growth and the aging process, although its precise role in human physiology and disease is not yet fully understood.

ENOX1

WDR70 (WD Repeat Domain 70) is a gene that encodes a protein containing WD repeat domains, which help facilitate protein-protein interactions. This protein plays a role in important cellular processes such as cell cycle regulation and may also be involved in RNA processing. Although its precise functions are still under investigation, WDR70 is believed to contribute to cellular organization and overall cell function.

WDR70

The UNCX (Unc-4 Homeobox) gene encodes a transcription factor that contains a homeobox domain. It plays a crucial role in neuronal development by helping to determine neuronal identity and guiding axon connections within the developing nervous system.

UNCX

SLC6A2 (Solute Carrier Family 6 Member 2) is a protein that acts as the norepinephrine transporter, responsible for the reabsorption of norepinephrine into presynaptic nerve terminals. This transporter plays a crucial role in regulating mood, alertness, and the stress response. It is also a target for certain antidepressant drugs. Malfunctions in SLC6A2 are linked to psychiatric and neurological disorders such as depression and attention deficit hyperactivity disorder (ADHD).

SLC6A2

FOXP2 (Forkhead Box P2) is a gene that encodes a transcription factor essential for speech and language development. It plays a key role in neural circuits related to communication. Mutations in FOXP2 have been linked to speech and language impairments, making it a critical gene in the study of human language and its evolution.

FOXP2

ATP5MK (ATP Synthase Membrane Subunit K) is a part of the mitochondrial ATP synthase complex, crucial for producing ATP during cellular respiration. It plays a role in cellular energy metabolism, and dysfunction in its activity can disrupt energy balance, potentially causing metabolic disorders.

ATP5MK

SLCO1B1 (Solute Carrier Organic Anion Transporter Family Member 1B1): SLCO1B1 is a transporter protein that helps move drugs, including statins, into liver cells for metabolism. Genetic variations in SLCO1B1 can reduce transporter function, leading to higher drug levels in the blood and an increased risk of statin-induced muscle side effects. Testing SLCO1B1 can help guide statin selection and dosing to minimize adverse effects.

SLCO1B1

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

IGFBP3

SFTPA1 (Surfactant Protein A1) is a gene that encodes a protein essential for lung function. This protein plays a key role in the innate immune defense of the respiratory tract and helps reduce surface tension in the lungs, supporting breathing efficiency.

SFTPA1

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

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

IGF2 (Insulin-Like Growth Factor 2) is a protein that plays a crucial role in growth and development, particularly during fetal stages. It is part of the insulin-like growth factor system, which affects cell growth, proliferation, and survival. IGF2 also promotes muscle growth and differentiation, and its activity has been associated with certain cancers due to its role in encouraging cell proliferation.

SLC23A1

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