Components

Consultations

Consultations Website

GetTested Rapid Test

Supplements

POCD5 (Postoperative Cognitive Dysfunction 5): POCD5 is a gene linked to postoperative cognitive dysfunction, a condition characterized by cognitive decline after surgery. Research is ongoing to understand the specific mechanisms and factors that contribute to this condition.

POCD5

PSAP (Prosaposin): PSAP is a precursor protein that is processed into saposins, which are essential for breaking down lipids within lysosomes. These saposins play a crucial role in preventing the buildup of complex lipids in cells. Deficiencies or mutations in PSAP can result in lysosomal storage disorders, including Gaucher disease, Fabry disease, and metachromatic leukodystrophy.

PSAP

TMEM51 (Transmembrane Protein 51): TMEM51 is a protein linked to membrane organization and intracellular trafficking. Although its exact functions are not yet fully understood, it is believed to play a role in intracellular transport and cell signaling pathways.

TMEM51

ANKK1 (Ankyrin Repeat and Kinase Domain Containing 1): ANKK1 is a gene involved in signal transduction and may help regulate dopamine receptors, which are crucial for brain function. Variants near ANKK1 have been associated with neuropsychiatric disorders and addiction, likely due to their effects on dopamine signaling.

ANKK1

RALGDS (Ral Guanine Nucleotide Dissociation Stimulator): RALGDS is a guanine nucleotide exchange factor that regulates the activation of Ral GTPases. It plays a key role in signal transduction pathways, influencing cell growth, differentiation, and survival. Changes in RALGDS activity have been linked to cancer development and progression.

RALGDS

RADX (RADX DNA Repair Helicase): RADX is a protein that plays a crucial role in DNA repair, especially in maintaining genomic stability during DNA replication. It participates in the cellular response to DNA damage and helps prevent genomic instability — a key factor in cancer development. RADX is a significant focus for understanding DNA repair mechanisms and advancing cancer research.

RADX

RRAS2 (RAS Related 2): RRAS2 is a member of the RAS gene family involved in regulating cell growth and differentiation. It plays a key role in signal transduction pathways and is essential for various cellular processes, including cell adhesion and migration.

RRAS2

PSMC1 (Proteasome 26S Subunit, ATPase 1): PSMC1 is a gene that encodes a protein component of the 26S proteasome, which is responsible for degrading ubiquitinated proteins. It plays a key role in maintaining protein homeostasis within cells by removing damaged or misfolded proteins and contributes to the regulation of cellular processes such as the cell cycle and stress responses.

PSMC1

TBX3 (T-Box Transcription Factor 3): TBX3 is a transcription factor that plays a crucial role in embryonic development, regulating organ formation including limbs, heart, and mammary glands. Mutations or misregulation of TBX3 can lead to developmental disorders such as ulnar-mammary syndrome. It is also involved in cancer, where it may function as a transcriptional repressor to block cell senescence and promote cell proliferation.

TBX3

MMP15 (Matrix Metallopeptidase 15): MMP15 is a gene that encodes an enzyme belonging to the matrix metalloproteinase family, which is involved in the breakdown and remodeling of the extracellular matrix (ECM). This enzyme plays a role in physiological processes such as wound healing, angiogenesis, and embryonic development by regulating ECM composition. Proper MMP15 activity is essential for tissue repair and remodeling, while its dysregulation may contribute to conditions like cancer progression, fibrosis, and inflammatory diseases.

MMP15

TENM4 (Teneurin Transmembrane Protein 4): TENM4 is part of the teneurin family and plays a role in neuronal development and function. It is crucial for cell-to-cell adhesion and communication within the nervous system and has been linked to developmental processes and neurological disorders.

TENM4

GPR158 (G Protein-Coupled Receptor 158): GPR158 is a member of the G protein-coupled receptor (GPCR) family and is involved in various physiological processes, including neuronal development and the regulation of mood and behavior. It has been linked to mental health disorders such as depression and anxiety, underscoring its importance in brain function and emotional regulation.

GPR158

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. Changes in S1PR4 signaling can affect immune responses and contribute to inflammatory and immune-related disorders.

S1PR4

TBKBP1 (TANK-Binding Kinase 1 Binding Protein 1): TBKBP1 is a scaffold protein that plays a crucial role in regulating innate immunity and inflammatory responses. Also known as SINTBAD, it interacts with the kinases TBK1 and IKKε, contributing to antiviral defense and the production of type I interferons. TBKBP1’s role in modulating immune signaling pathways highlights its significance in immune function and its potential as a therapeutic target in inflammatory and autoimmune diseases.

TBKBP1

PIP5KL1 (Phosphatidylinositol-4-Phosphate 5-Kinase-Like 1): PIP5KL1 is a gene that encodes an enzyme involved in phosphoinositide metabolism. This enzyme catalyzes the conversion of phosphatidylinositol 4-phosphate (PI4P) to phosphatidylinositol 4,5-bisphosphate (PI(4,5)P2), a critical signaling molecule that regulates cellular processes such as membrane trafficking and cytoskeletal organization.

PIP5KL1

CCDC170 (Coiled-Coil Domain Containing 170): CCDC170 is a gene with a function that is not yet well understood, but it has been associated with breast cancer, particularly estrogen receptor-positive breast cancer. It may play a role in cellular structure and organization.

CCDC170

TTC28 is a gene that encodes a protein containing tetratricopeptide repeat (TPR) domains, which facilitate protein-protein interactions. While its specific functions are not fully characterized, TTC28 may play a role in regulating transcription, the cell cycle, and protein transport. Ongoing research is investigating its potential involvement in cellular pathways and disease processes.

TTC28

TBC1D8B (TBC1 Domain Family Member 8B): TBC1D8B is part of the TBC1 domain family, recognized for their role in intracellular trafficking and signaling. This gene regulates membrane trafficking and contributes to cellular transport processes. Research on TBC1D8B can offer insights into cellular homeostasis and diseases linked to dysfunctions in intracellular transport.

TBC1D8B

PLEKHM1 (Pleckstrin Homology Domain-Containing Family M Member 1): PLEKHM1 is a protein involved in autophagy and lysosome function. It plays a key role in the fusion of autophagosomes with lysosomes, a crucial step in the autophagic process. Mutations in PLEKHM1 have been associated with osteopetrosis, a rare bone disease.

PLEKHM1

PLTP (Phospholipid Transfer Protein): PLTP is a protein that plays a crucial role in lipid metabolism and transport within the body. It facilitates the transfer of phospholipids between various lipoprotein particles, helping to regulate their composition and function. PLTP is essential for maintaining plasma lipoprotein balance, affecting the size, composition, and function of HDL and LDL particles, and supporting processes such as reverse cholesterol transport.

PLTP

TNFSF18 (TNF Superfamily Member 18): TNFSF18 is a molecule involved in regulating immune responses in the body. Also known as the GITR ligand, it binds to GITR on T cells and regulatory T cells, enhancing effector T cell activity while inhibiting regulatory T cell function. This dual role makes TNFSF18 a crucial target in cancer immunotherapy and autoimmune disease treatment.

TNFSF18

MACF1 (Microtubule-Actin Crosslinking Factor 1): MACF1 is a gene that encodes a cytoskeletal linker protein responsible for stabilizing and connecting microtubules and actin filaments. It plays a crucial role in cell movement, neuronal development, and cellular signaling. Dysfunction of MACF1 is linked to developmental disorders and may contribute to cancer metastasis.

MACF1

TNFRSF1A (Tumor Necrosis Factor Receptor Superfamily Member 1A): TNFRSF1A is a gene that encodes a receptor in the TNF receptor superfamily, which plays a key role in mediating cellular responses to tumor necrosis factor-alpha (TNF-α). This receptor is involved in regulating inflammation, immune responses, apoptosis, and cell proliferation. By binding TNF-α, TNFRSF1A can trigger signaling pathways that influence cell survival, death, and inflammatory processes, highlighting its importance in immune system regulation and disease mechanisms.

TNFRSF1A

PDCD6IP (Programmed Cell Death 6 Interacting Protein): PDCD6IP is a protein that indicates the balance and regulation of essential cellular processes. Also known as ALIX, it participates in endocytosis, membrane repair, and cell death pathways. PDCD6IP plays a vital role in multivesicular body formation and the budding of enveloped viruses like HIV. Malfunctions in PDCD6IP are linked to neurodegenerative diseases and cancer, highlighting its significance in autophagy, apoptosis, and overall cellular homeostasis.

PDCD6IP

PRTFDC1 (Phosphoribosyl Transferase Domain Containing 1): PRTFDC1 is an enzyme involved in the purine salvage pathway, which recycles purines from degraded DNA and RNA to generate new nucleotides. This role in nucleotide metabolism indicates its importance for cell proliferation and DNA repair. Alterations in this pathway can affect cellular energy balance and genomic stability, potentially influencing metabolic health and the DNA damage response.

PRTFDC1

CD28 (CD28 Molecule): CD28 is a co-stimulatory receptor on T cells that is essential for their full activation and survival. It plays a critical role in the immune response, including the development of T cell memory. CD28 signaling is also a key target for immunotherapeutic drugs, particularly in the treatment of cancer and autoimmune diseases.

CD28

CASQ2 (Calsequestrin 2): CASQ2 is a protein involved in calcium storage within the sarcoplasmic reticulum of cardiac muscle cells. It plays a key role in regulating calcium balance and cardiac muscle contraction. Mutations in CASQ2 are linked to catecholaminergic polymorphic ventricular tachycardia, a condition characterized by irregular heartbeats triggered by physical activity or stress.

CASQ2

PRKAG2 (Protein Kinase AMP-Activated Non-Catalytic Subunit Gamma 2): PRKAG2 encodes a regulatory subunit of AMP-activated protein kinase (AMPK), a key enzyme involved in cellular energy regulation. It plays a role in sensing cellular energy status and activating pathways that help restore energy balance.

PRKAG2

CD40 (Cluster of Differentiation 40): CD40 is a cell surface receptor protein that plays a central role in the immune system. It is primarily expressed on B cells and antigen-presenting cells. Activation of CD40 is essential for B cell maturation, antibody production, and the development of adaptive immunity. Mutations in CD40 or its ligand CD40L can lead to immunodeficiency disorders.

CD40

IRF8 (Interferon Regulatory Factor 8) is a gene that encodes a transcription factor crucial for the development and function of immune cells, especially dendritic cells and macrophages. It helps regulate genes involved in immune responses and antigen presentation. Changes in IRF8 can impact immune cell differentiation and overall immune function.

IRF8

PAX1 (Paired Box 1): PAX1 is a key regulatory gene involved in the development of the spine and thoracic cage. It plays a crucial role in skeletal formation, and mutations in PAX1 can lead to congenital spinal and skeletal malformations.

PAX1

SERAC1 (Serine Active Site Containing 1): SERAC1 is a gene that encodes a protein involved in lipid metabolism and mitochondrial function. It plays a role in the synthesis of cardiolipin, a specialized phospholipid essential for mitochondrial membrane integrity and function. Mutations in SERAC1 can disrupt cardiolipin production, potentially causing mitochondrial dysfunction and associated disorders.

SERAC1

MARCO (Macrophage Receptor With Collagenous Structure): MARCO is a receptor found on the surface of macrophages that plays a role in the immune system’s response to pathogens and particulate matter. It is involved in recognizing and clearing bacteria and environmental particles, contributing to innate immunity and the regulation of inflammation.

MARCO

LEPR (Leptin Receptor): LEPR is a receptor for the hormone leptin, playing a crucial role in regulating energy balance, including appetite and metabolism. Proper LEPR function is essential for the body to respond to leptin signals, while mutations in LEPR can lead to leptin resistance, a condition commonly linked to obesity.

LEPR

PAPSS2 (3'-Phosphoadenosine 5'-Phosphosulfate Synthase 2): PAPSS2 is a gene that encodes an enzyme essential for producing PAPS (3'-phosphoadenosine 5'-phosphosulfate), a crucial sulfate donor in various sulfation reactions. It plays a key role in the metabolism of hormones, drugs, and other molecules. Mutations in PAPSS2 can impact skeletal development and cause disorders such as spondyloepimetaphyseal dysplasia.

PAPSS2

GFI1B (Growth Factor Independence 1B): GFI1B is a transcriptional repressor that plays a crucial role in the development and differentiation of red blood cells and platelets. It regulates genes involved in the cell cycle and apoptosis, helping to maintain a balance between cell growth and maturation. Dysregulation of GFI1B is linked to blood disorders such as anemia and thrombocytopenia and also contributes to the development of leukemia. Its function is essential for maintaining hematopoietic cell balance and underscores the complexity of blood cell production.

GFI1B

LPIN2 (Lipin 2): LPIN2 is a protein that plays a crucial role in lipid metabolism and energy production, especially in converting phosphatidic acid to diacylglycerol, a key step in the synthesis of triglycerides and phospholipids. It also helps regulate gene expression related to lipid metabolism and inflammation. Mutations in LPIN2 are linked to Majeed syndrome, which is characterized by chronic recurrent multifocal osteomyelitis, dermatitis, and dyserythropoietic anemia, highlighting its significance in both metabolic and immune functions.

LPIN2

NFIA (Nuclear Factor I A) is a transcription factor that plays essential roles in regulating gene expression, cellular differentiation, and development. It is primarily located in the nucleus and is part of the Nuclear Factor I (NFI) family, a group of conserved DNA-binding proteins involved in transcription regulation. NFIA functions by binding to specific DNA sequences called NFIA recognition elements in gene promoters, modulating gene activity through interactions with co-regulators and chromatin-modifying enzymes.

NFIA

PRDM16 (PR Domain Containing 16): PRDM16 is a transcription factor that plays a crucial role in regulating the differentiation of brown adipocytes and activating thermogenesis. It is essential for controlling energy expenditure and metabolic health. As a key regulator of the body’s energy balance, PRDM16 holds significant potential in advancing our understanding of metabolism and tackling obesity.

PRDM16

NFATC2 (Nuclear Factor Of Activated T-Cells 2): NFATC2 is a transcription factor that plays a crucial role in regulating immune responses. It becomes activated in T cells through signals that increase intracellular calcium, enabling it to move to the nucleus and affect genes involved in T cell activation and differentiation. NFATC2 is essential for proper immune system development, and its dysregulation has been associated with autoimmune diseases and immunodeficiency.

NFATC2

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 crucial role in lipid metabolism and the transport of dietary fats. Dysregulation of LSR can contribute to lipid disorders and cardiovascular diseases.

LYZ (Lysozyme): Lysozyme (LYZ) is an enzyme that plays a crucial role in the innate immune system by breaking down the peptidoglycan layer of bacterial cell walls, resulting in bacterial lysis. It is found in abundance in various secretions, including saliva, tears, and milk, as well as in neutrophil granules. In addition to its antibacterial properties, LYZ also helps regulate inflammation and holds potential therapeutic uses for treating infections and inflammatory diseases.

OR2M3 (Olfactory Receptor, Family 2, Subfamily M, Member 3): OR2M3 is a gene that is part of the large olfactory receptor family responsible for the sense of smell. These receptors detect volatile odor molecules and are highly diverse, allowing the perception of a wide range of scents. OR2M3 is expressed in the olfactory epithelium of the nose and plays a crucial role in odor detection and signal transmission to the brain. Research on OR2M3 and related receptors contributes to a deeper understanding of smell and holds potential applications in flavor science and sensory biology.

OR2M3

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, affecting RNA stability, function, and regulation. ADO plays a crucial role in RNA editing, contributing to the diversity and functionality of RNA molecules.

TLN2 (Talin 2): TLN2 is a gene that encodes the talin 2 protein, which is involved in integrin-mediated signaling and plays a key role in cell adhesion, migration, and signaling. It contributes to the formation and stabilization of integrin-based adhesions and may influence important cellular processes, including immune responses and cancer progression.

TLN2

CNTN2 (Contactin 2): CNTN2 is a neuronal cell adhesion molecule, also known as TAG-1, that plays a crucial role in the development and function of the nervous system. It is involved in forming neural circuits and synaptic connections. Variations or mutations in CNTN2 have been linked to neurodevelopmental disorders and may affect neurological processes like learning and memory.

CNTN2

LCT (Lactase): LCT is a gene that encodes the enzyme lactase, which is essential for digesting lactose found in milk. Variations in this gene can impact the body’s ability to break down lactose, potentially causing lactose intolerance and associated gastrointestinal symptoms.

LRTM1 (Leucine Rich Repeats And Transmembrane Domains 1): LRTM1 is a gene involved in neural development and synaptic function. It plays a key role in neuronal communication and is potentially linked to neurodegenerative diseases, making it important for understanding brain health and neurological disorders.

LRTM1

NNMT (Nicotinamide N-Methyltransferase): NNMT is an enzyme that methylates nicotinamide (vitamin B3) and plays a crucial role in regulating cellular metabolism and energy balance. Its activity has been linked to obesity, metabolic disorders, and cancer, making NNMT a significant target for therapeutic interventions.

NNMT

PRR11 (Proline Rich 11): PRR11 is a gene that was recently identified, with functions that are not yet fully understood. It is believed to play a role in regulating the cell cycle and has been linked to cancer biology, particularly in processes such as cell proliferation and tumor growth.

PRR11

PPP1CB (Protein Phosphatase 1 Catalytic Subunit Beta): PPP1CB is a gene that encodes a catalytic subunit of protein phosphatase 1 — an enzyme vital for regulating cellular processes through dephosphorylation. It plays key roles in muscle contraction, glycogen metabolism, and cell division. Dysregulation of PPP1CB activity has been associated with various diseases, including heart disorders and certain cancers.

PPP1CB

MANBA (Mannosidase Beta): MANBA is a gene that encodes a lysosomal enzyme responsible for breaking down N-linked glycoproteins. It catalyzes the hydrolysis of beta-linked mannose residues, playing a crucial role in glycoprotein degradation. A deficiency in MANBA activity can cause lysosomal storage disorders, leading to the accumulation of undegraded glycoproteins and disrupting cellular function.

MANBA

HMGCS2 (3-Hydroxy-3-Methylglutaryl-CoA Synthase 2): HMGCS2 is a gene that encodes an enzyme involved in the production of ketone bodies—alternative energy sources generated during fasting or low-carbohydrate conditions. It plays a key role in energy metabolism and is primarily expressed in the liver.

HMGCS2

LRRN1 (Leucine-Rich Repeat Neuronal 1): LRRN1 is a gene that highlights its role in neural development. It encodes a protein that is part of the leucine-rich repeat family, which plays a key role in protein-protein interactions and in the formation and maintenance of neural connections. LRRN1 is important for understanding neural development and may be involved in neurodevelopmental disorders.

LRRN1

TFRC (Transferrin Receptor): TFRC is a measure that reflects the activity of a key protein responsible for iron homeostasis in the body. TFRC mediates the uptake of transferrin-bound iron into cells and is essential for erythropoiesis. It is also widely used as a marker of cellular proliferation, with dysregulation linked to conditions such as anemia and cancer.

TFRC

RBM17 (RNA Binding Motif Protein 17): RBM17 is a protein involved in RNA splicing, a crucial process in gene expression. It plays a significant role in regulating alternative splicing, which influences the diversity of proteins produced from a single gene. Changes in RBM17 may be linked to diseases such as cancer, where disrupted splicing can affect cell growth and survival.

RBM17

TET2 (Tet Methylcytosine Dioxygenase 2): TET2 is an enzyme that catalyzes the conversion of 5-methylcytosine to 5-hydroxymethylcytosine in DNA. This function is crucial for active DNA demethylation, which is vital for regulating gene expression, directing cellular differentiation, and preserving genomic stability. Mutations in TET2 are commonly found in hematologic cancers, including myelodysplastic syndromes and acute myeloid leukemia, underscoring its importance in epigenetic regulation and cancer development.

TET2

Tex26 (Testis Expressed 26): Tex26 is a gene primarily expressed in the testis and is believed to play a role in testicular function and development. Although its specific functions are not yet fully understood, Tex26 is considered important in reproductive biology and may be relevant to fertility research.

Tex26

TUSC1 (Tumor Suppressor Candidate 1): TUSC1 is a gene thought to act as a tumor suppressor, involved in regulating cell growth and promoting apoptosis. Decreased expression of TUSC1 has been noted in various cancers, supporting its potential protective role against cancer development.

TUSC1

TMEM243 (Transmembrane Protein 243): TMEM243 is a gene that encodes a transmembrane protein whose function has not yet been well defined. Like many proteins of this kind, it may be involved in cellular signaling or transport processes.

TMEM243

APCS (Amyloid P Component, Serum): APCS is a protein that plays a key role in the innate immune system, helping respond to infection and injury. It binds to pathogens and damaged cells to support their clearance and is also involved in amyloid plaque formation, linking it to diseases like Alzheimer’s. Its roles in immune modulation and inflammation make it a focus of therapeutic research.

APCS

ARRDC3 (Arrestin Domain Containing 3): ARRDC3 is a gene implicated in regulating cell signaling pathways and has been studied for its potential role in tumor suppression. It participates in receptor internalization and may influence cellular responses to external signals, including those involved in metabolic regulation.

ARRDC3

ESR1, also known as Estrogen Receptor Alpha, is a protein that belongs to the nuclear hormone receptor family and functions as a transcription factor. It plays a key role in mediating the effects of estrogen, a steroid hormone, throughout various tissues in the body. ESR1 is essential for regulating gene expression in response to estrogen binding. When estrogen is absent, ESR1 remains inactive in the cytoplasm, bound to heat shock proteins. Upon estrogen binding, ESR1 undergoes a conformational change, detaches from the heat shock proteins, and moves to the nucleus to regulate gene transcription.

ESR1

PLEKHG1 (Pleckstrin Homology and RhoGEF Domain Containing G1): PLEKHG1 is a gene that encodes a protein containing pleckstrin homology and RhoGEF domains. These domains indicate the protein is involved in signaling pathways that regulate cell shape, cytoskeletal organization, and cell migration. Although its exact functions are still being researched, PLEKHG1 is thought to play a role in controlling cytoskeletal dynamics and cell movement.

PLEKHG1

NKX2-1, also known as thyroid transcription factor 1 (TTF-1), is a transcription factor that regulates gene expression by binding to specific DNA sequences. A member of the NKX family of homeodomain-containing proteins, it plays a key role in the development and function of the thyroid, lung, and brain. In the thyroid, NKX2-1 is expressed during embryonic development and is essential for the formation and differentiation of thyroid follicular cells.

NKX2-1

PTPN7 (Protein Tyrosine Phosphatase, Non-Receptor Type 7): PTPN7 is an enzyme involved in cell signaling, particularly within the immune system. It plays a key role in regulating T-cell activation and differentiation, thereby influencing immune responses. Dysregulation of PTPN7 can contribute to immune-related disorders and may have implications in autoimmune diseases and cancer due to its effects on cell signaling pathways.

PTPN7

TRDMT1 (tRNA (cytosine(38)-C(5))-methyltransferase): TRDMT1 is an enzyme that catalyzes the methylation of cytosine at position 38 in tRNA molecules. This modification, known as 5-methylcytosine (m5C), is important for tRNA stability, proper folding, and accurate codon recognition during protein synthesis. TRDMT1-mediated methylation supports key cellular processes such as gene expression regulation and stress responses. Dysregulation of TRDMT1 activity has been linked to diseases including cancer and neurodegenerative disorders.

TRDMT1

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.

IL12B

LYRM7 (LYR Motif Containing 7): LYRM7 is a gene that encodes a protein involved in assembling mitochondrial complex I, a crucial component of the mitochondrial respiratory chain. This complex is vital for energy production through oxidative phosphorylation. Mutations or dysregulation of LYRM7 can lead to mitochondrial dysfunction, contributing to metabolic and neurodegenerative disorders. Its role in energy metabolism highlights its importance in maintaining cellular function and viability.

LYRM7

MECOM (MDS1 and EVI1 Complex Locus): MECOM is a transcriptional regulator involved in hematopoiesis and the development of certain cancers, particularly myeloid leukemia. It encodes EVI1, a protein that plays a role in gene regulation, cell proliferation, and cell differentiation.

MECOM

FARSA (Phenylalanyl-tRNA Synthetase Subunit Alpha): FARSA is a protein involved in the process of protein synthesis translation, specifically responsible for attaching phenylalanine to its corresponding tRNA. This function is essential for the accurate translation of mRNA into proteins. Mutations or dysregulation of FARSA can lead to errors in protein synthesis, potentially causing various cellular dysfunctions and contributing to disease development.

FARSA

NR3C2, also known as Nuclear Receptor Subfamily 3 Group C Member 2 or mineralocorticoid receptor (MR), is a nuclear receptor protein that plays a key role in regulating electrolyte balance and blood pressure. It functions as a ligand-activated transcription factor primarily located in the cytoplasm of target cells. When bound to mineralocorticoid hormones such as aldosterone, NR3C2 undergoes a conformational change and translocates to the nucleus to exert its effects. Its primary function includes regulating sodium and potassium ion transport in the kidney, colon, and salivary glands.

NR3C2

ADAL (Adenosine Deaminase-Like): ADAL (Adenosine Deaminase-Like) is a protein similar to adenosine deaminase (ADA) and plays a role in purine metabolism. It is crucial for breaking down adenosine, a molecule important for cellular energy transfer and signaling. ADAL’s activity in adenosine metabolism is vital for maintaining cellular energy balance and nucleotide homeostasis.

ADAL

C-reactive protein (CRP) testing measures the amount of CRP in the blood, a marker that indicates inflammation in the body. Elevated CRP levels can signal acute inflammation, infections, or chronic conditions such as rheumatoid arthritis and heart disease. This test is commonly used to diagnose and monitor inflammatory conditions, detect flare-ups, and assess cardiovascular risk. Regular CRP testing helps guide treatment decisions and evaluate the effectiveness of therapies in reducing inflammation.

FOXO3 (Forkhead Box O3): FOXO3 is a transcription factor that plays a key role in regulating genes involved in cell cycle arrest, DNA repair, and apoptosis. It is an important player in the study of longevity and age-related diseases, influencing pathways that affect the aging process. In aging research, FOXO3 stands out as a central factor, with scientists working to understand its role in the complex mechanisms of life and aging.

FOXO3

PRB2 (Proline-Rich Protein BstNI Subfamily 2): PRB2 is a protein involved in oral and salivary biology. It plays a key role in forming the dental pellicle and protecting the oral mucosa. As a member of the proline-rich protein family, PRB2 is essential for maintaining oral health and defending against dental caries and other oral diseases.

PRB2

COG1 (Component Of Oligomeric Golgi Complex 1): COG1 is a part of the COG complex, a vital element for normal Golgi function and protein trafficking within the cell. Proper functioning of COG1 is crucial for glycoprotein processing, and mutations in COG1 can impair Golgi activity, resulting in congenital disorders of glycosylation—a group of metabolic conditions that cause various developmental issues.

COG1

PAX5, also known as Paired Box 5, is a transcription factor that plays a crucial role in B-cell development and differentiation. It is part of the PAX family of transcription factors, characterized by a conserved paired box domain involved in DNA binding and protein interactions. PAX5 is vital for directing B-cell lineage commitment during hematopoiesis and is expressed in progenitor cells that are destined to become B cells, supporting their development from hematopoietic stem cells.

PAX5

EIF4A1, also known as Eukaryotic Translation Initiation Factor 4A1, is a highly conserved RNA helicase enzyme that plays a crucial role in the initiation of translation, the essential process of protein synthesis. As a member of the DEAD-box RNA helicase family, EIF4A1 is responsible for unwinding secondary structures in mRNA, enabling ribosomes to access the initiation codon and begin protein production. It functions as part of the eukaryotic translation initiation complex, working alongside other initiation factors to bind and scan the 5' untranslated region (UTR) of mRNA.

EIF4A1

LGR4 (Leucine-Rich Repeat-Containing G Protein-Coupled Receptor 4): LGR4 is a G protein-coupled receptor that plays a crucial role in signaling pathways, including Wnt signaling. It is essential for tissue development, maintenance, and homeostasis, and has been researched for its involvement in stem cell biology and organ regeneration.

LGR4

FGFR2 (Fibroblast Growth Factor Receptor 2): FGFR2 is a receptor that binds to fibroblast growth factors and plays a key role in cell growth, differentiation, and tissue repair. It is essential for normal development, and mutations in FGFR2 are associated with several developmental disorders such as craniosynostosis and skeletal dysplasia, as well as being involved in certain cancers.

FGFR2

SH2B3 (SH2B Adaptor Protein 3): SH2B3 (SH2B Adaptor Protein 3) is an adaptor protein that negatively regulates cytokine signaling in hematopoietic cells. It plays a key role in maintaining hematopoietic stem cell homeostasis and controlling immune responses. Mutations in SH2B3 are linked to various hematologic disorders, including myeloproliferative neoplasms and autoimmune diseases, highlighting its importance in blood cell development and immune regulation.

SH2B3

LEMD3 (Lamin-Associated Polypeptide 2, Isoform 1): LEMD3 is a gene that encodes a protein linked to the nuclear envelope, playing a role in the structure and organization of the nucleus. Mutations in LEMD3 have been associated with Buschke-Ollendorff syndrome, a rare genetic disorder affecting bone and skin.

LEMD3

NFKBIE (NF-Kappa-B Inhibitor Epsilon): NFKBIE is a gene that encodes a key regulator of the NF-kappa-B pathway, which plays an important role in immune responses, inflammation, and cell survival. It functions by inhibiting NF-kappa-B activity, helping to control the expression of genes involved in immune and inflammatory processes. Dysregulation of NFKBIE has been associated with autoimmune diseases, chronic inflammation, and cancer, highlighting its role in immune regulation and disease development.

NFKBIE

ETS2 (ETS Proto-Oncogene 2, Transcription Factor): ETS2 is a gene that encodes a transcription factor from the ETS family. Transcription factors such as ETS2 regulate the expression of specific target genes by binding to particular DNA sequences. ETS2 plays crucial roles in cellular processes including cell proliferation, differentiation, and development. Dysregulation of ETS2 has been associated with cancer and developmental disorders.

ETS2

LRRC6 (Leucine-Rich Repeat-Containing Protein 6): LRRC6 is a gene that encodes a protein involved in the structure of cilia within cells. Cilia play a crucial role in cell movement and signaling. Mutations in LRRC6 can result in ciliopathies, a group of genetic disorders characterized by ciliary dysfunction and a variety of clinical symptoms.

LRRC6

BORCS7 (BLOC-1 Related Complex Subunit 7): BORCS7 is a component of the BLOC-1 (Biogenesis of Lysosome-related Organelles Complex-1). It plays a crucial role in the formation of lysosome-related organelles, such as melanosomes in melanocytes. Dysfunction in BORCS7 may impact pigmentation and neurological functions.

BORCS7

SETD7 (SET Domain Containing 7, Lysine Methyltransferase): SETD7 is a gene involved in epigenetic regulation that encodes an enzyme responsible for methylating histone proteins. This modification is crucial for controlling gene expression. Dysregulation of SETD7 activity has been associated with various diseases, including cancer and cardiovascular disorders.

SETD7

CCR3 (C-C Motif Chemokine Receptor 3): CCR3 is a receptor involved in recruiting and activating eosinophils, basophils, and T cells, playing a crucial role in inflammatory responses and allergic disease pathology. It acts as the primary receptor for eotaxin, a chemokine that drives eosinophilic inflammation seen in conditions like asthma and allergic rhinitis. Dysregulation of CCR3 signaling can exacerbate allergic and inflammatory conditions, making it a potential target for therapeutic intervention.

CCR3

CDK17 (Cyclin-dependent kinase 17): CDK17 is a nuclear enzyme that belongs to the cyclin-dependent kinase family, essential for regulating the cell cycle, controlling transcription, and cellular differentiation. As a serine/threonine protein kinase, CDK17 phosphorylates target proteins to regulate their activity. It plays a crucial role in driving cell cycle progression, especially in promoting the transition from the G1 phase to the S phase, where DNA replication occurs.

CDK17

KIAA1109: KIAA1109 is a gene linked to various autoimmune diseases, including rheumatoid arthritis, systemic lupus erythematosus, and inflammatory bowel disease. Although its precise function is not completely understood, it is believed to play a crucial role in immune regulation and the body’s inflammatory responses. Researching KIAA1109 is essential for understanding the genetic foundations of autoimmune disorders and for supporting the development of targeted treatments.

KIAA1109

STXBP5 (Syntaxin Binding Protein 5): STXBP5 is a protein that plays a crucial role in regulating neurotransmitter release at synapses. It interacts with components of the SNARE complex, facilitating vesicle trafficking and exocytosis. STXBP5 is essential for proper synaptic function and has been associated with neurological disorders.

STXBP5

GALNT3 (Polypeptide N-Acetylgalactosaminyltransferase 3): GALNT3 is a gene that encodes a protein involved in O-linked glycosylation, which attaches N-acetylgalactosamine to proteins. This modification is essential for proper protein function and cell signaling. Mutations in GALNT3 can disrupt calcium and phosphate balance, leading to disorders such as familial tumoral calcinosis.

GALNT3

MYH15 (Myosin Heavy Chain 15): MYH15 is a gene that codes for a myosin heavy chain protein, mainly found in skeletal muscle. Myosins are motor proteins crucial for muscle contraction and cell movement. Although the specific functions of MYH15 are still being studied, it may be involved in muscle development and overall muscle function.

MYH15

HSD17B13, also known as Hydroxysteroid 17-beta dehydrogenase 13, is an enzyme mainly located in the liver that plays a role in the metabolism of steroid hormones and fatty acids. It is part of the hydroxysteroid (17-beta) dehydrogenase (HSD17B) family, which catalyzes the conversion between hydroxysteroids and ketosteroids. HSD17B13 is important for fatty acid metabolism, especially in the oxidation of long-chain fatty acids, and is found in peroxisomes—cellular organelles responsible for processing fatty acids. Its enzymatic activity is crucial for converting long-chain fatty acyl-CoAs into 3-ketoacyl-CoAs, supporting healthy liver function and lipid metabolism.

HSD17B13

MCPH1 (Microcephalin 1): MCPH1 is a gene that plays a crucial role in brain development, especially in regulating brain size. It is involved in the DNA damage response and cell cycle regulation. Mutations in MCPH1 can cause microcephaly, underscoring its significant role in neurodevelopment.

MCPH1

CNTNAP2, also known as Contactin Associated Protein-Like 2, is a cell adhesion molecule that belongs to the neurexin superfamily. It plays a key role in the development and function of the nervous system, particularly in neuronal migration, axon guidance, synapse formation, and signal transmission. CNTNAP2 is predominantly expressed in the developing nervous system, where it interacts with other cell adhesion molecules, extracellular matrix proteins, and signaling molecules to regulate proper neuronal positioning and axonal pathfinding. Dysregulation of CNTNAP2 expression or function can impact brain development and neural connectivity.

CNTNAP2

LRRC42 (Leucine-rich repeat-containing protein 42): LRRC42 is a gene that encodes a protein belonging to the leucine-rich repeat (LRR) family, characterized by repeating sequences rich in leucine residues. Primarily located in the cytoplasm or on the cell membrane, LRRC42 is involved in cellular processes such as signal transduction, protein-protein interactions, and cell adhesion. Its LRR domains act as interaction interfaces, allowing LRRC42 to bind specific partner proteins and engage in various cellular pathways.

LRRC42

MFF (Mitochondrial Fission Factor): MFF is a protein that plays a crucial role in mitochondrial dynamics, especially in mitochondrial fission. By recruiting dynamin-related protein 1 (Drp1) to the outer mitochondrial membrane, MFF facilitates mitochondrial division, which is vital for proper mitochondrial distribution, quality control, and energy metabolism. This process supports cell health, growth, and adaptation to metabolic demands. Dysregulation of MFF can impair mitochondrial shape and function, disrupting cellular energy balance and contributing to disease.

RREB1 (Ras Responsive Element Binding Protein 1): RREB1 is a gene that encodes a transcription factor that binds to the Ras-responsive element (RRE). It is involved in regulating gene expression in response to Ras signaling and plays a role in cell growth and proliferation.

SSBP3

Your Cart

Trusted by over 100.000+ customers