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The GetTested DNA Metabolic Health Test provides you with an in-depth understanding of your metabolic health by analyzing 240 carefully selected genes. This comprehensive analysis offers insights into your metabolism, blood sugar, weight, thyroid, parathyroid, and much more, along with personalized recommendations based on your genetics.

<p>The GetTested DNA Metabolic Health Test provides you with an in-depth understanding of your metabolic health by analyzing 240 carefully selected genes. This comprehensive analysis offers insights into your metabolism, blood sugar, weight, thyroid, parathyroid, and much more, along with personalized recommendations based on your genetics.</p>

DNA Metabolic Health Test

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

DTWD2

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

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

GADL1

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

ABCA6

AP2A2 (Adaptor-Related Protein Complex 2 Alpha 2 Subunit) is a key component of the AP-2 adaptor complex, which plays an essential role in clathrin-mediated endocytosis. This process is critical for the internalization of receptors and proteins into cells, influencing cell signaling and nutrient absorption. Dysregulation of AP2A2 can impact neuronal development and synaptic function, with possible links to neurological disorders.

AP2A2

DCAF4 (DDB1 And CUL4 Associated Factor 4) is a key component of the CUL4-DDB1 ubiquitin ligase complex, which is responsible for tagging proteins for degradation through ubiquitination. This process is essential for regulating protein levels, maintaining cellular balance, and managing stress responses. DCAF4 helps determine which proteins are targeted, playing important roles in cell cycle control, DNA repair, and signal transduction. Disruptions in DCAF4 function can lead to cellular imbalances and have been associated with cancer and other diseases, underscoring its importance in proteostasis and cellular health.

DCAF4

EDAR (Ectodysplasin A Receptor) is a receptor that plays a key role in the development of skin appendages such as hair, teeth, and sweat glands. Proper function 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

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

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.

ABCB4

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


SHISA4

FFAR4 (Free Fatty Acid Receptor 4) is a receptor that binds omega-3 fatty acids and plays a key role in regulating metabolism and inflammation. It contributes to improving insulin sensitivity, reducing inflammatory responses, and controlling appetite. FFAR4 is being studied as a promising target for treating metabolic conditions such as obesity and type 2 diabetes.

FFAR4

BCL11B (B-Cell CLL/Lymphoma 11B) is a transcription factor that plays a key role in the development and differentiation of T-cells, as well as in neuronal development. Proper regulation of BCL11B is essential for immune function and brain development. Mutations or dysregulation of BCL11B have been associated with certain blood cancers, such as T-cell acute lymphoblastic leukemia, and with neurodevelopmental disorders.


BCL11B

ETV3 (ETS Variant Transcription Factor 3) is a member of the ETS family of transcription factors, which regulate gene expression essential for cell growth, development, and differentiation. ETV3 primarily functions as a transcriptional repressor and plays important roles in controlling immune responses and other biological processes.

ETV3

CHRNB2 (Cholinergic Receptor Nicotinic Beta 2 Subunit) is a gene that encodes a subunit of the nicotinic acetylcholine receptors. These receptors are essential for neuronal signaling and communication in the nervous system. Variations in CHRNB2 have been linked to epilepsy, especially nocturnal frontal lobe epilepsy, highlighting its role in regulating neuronal excitability and synaptic transmission.


CHRNB2

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


BTN3A2

Phospholamban (PLN) is a regulatory protein found primarily in cardiac muscle cells. It plays a key role in controlling heart muscle contraction and relaxation by modulating the activity of the sarcoplasmic reticulum calcium pump (SERCA). At rest, PLN inhibits SERCA to regulate calcium levels, helping maintain calcium balance in heart cells. When stimulated, PLN is phosphorylated, which lifts this inhibition and boosts calcium uptake, supporting efficient cardiac muscle relaxation and overall heart function.

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

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

ARHGAP32

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.

SPATA2L (Spermatogenesis-associated protein 2-like) is a protein related to SPATA2, which is known to regulate cell death and inflammation pathways. Although the exact role of SPATA2L is still being studied, it is believed to participate in important cellular processes like apoptosis, autophagy, and immune response regulation. SPATA2L may influence key signaling pathways that control cell survival and death, helping maintain tissue balance and protect against stressors such as DNA damage or infection.

SPATA2L

EGR2 (Early Growth Response 2) is a transcription factor that plays an essential role in regulating the development of the nervous and immune systems. It is particularly important for the process of myelination in the peripheral nervous system and helps control cell growth and differentiation. Mutations in EGR2 are linked to Charcot-Marie-Tooth disease and related neuropathies, underscoring its key role in neural development and function.

EGR2

IGF2 (Insulin-Like Growth Factor 2) is a protein that plays a key role in growth and development, especially during fetal stages. It is part of the insulin-like growth factor system, which influences cell growth, proliferation, and survival. IGF2 also supports muscle growth and differentiation, and its activity has been linked to certain cancers due to its role in promoting cell proliferation.

IGF2

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


BCAT1

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

SLC6A2 (Solute Carrier Family 6 Member 2) is a protein that functions as the norepinephrine transporter, responsible for the reuptake of norepinephrine into presynaptic nerve terminals. This transporter plays a key role in regulating mood, alertness, and stress response. It is also a target for certain antidepressant medications. Dysfunctions in SLC6A2 are associated with psychiatric and neurological conditions such as depression and attention deficit hyperactivity disorder (ADHD).


SLC6A2

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 linked to the risk of developing gout.


SLC2A9

ARL4C (ADP Ribosylation Factor Like GTPase 4C) is a member of the ADP-ribosylation factor family of GTP-binding proteins. It is involved in cellular signaling and membrane trafficking, playing important roles in cytoskeletal organization and cell movement. ARL4C expression has also been associated with the development and progression of certain cancers.

ARL4C

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

SSBP3

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.


The UNCX (Unc-4 Homeobox) gene encodes a transcription factor containing a homeobox domain. It plays an essential role in neuronal development by helping specify neuronal identity and guiding axon connections in the developing nervous system.



UNCX

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

DBX1

ANAPC4 (Anaphase Promoting Complex Subunit 4) is a protein that forms part of the anaphase-promoting complex/cyclosome (APC/C), a crucial regulator of the cell cycle. It helps tag specific proteins for degradation, thereby controlling the timely progression of cells through different stages of division. Proper function of ANAPC4 is essential for normal cell cycle regulation, and its dysregulation may contribute to abnormalities linked to cancer development and progression.

ANAPC4

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


BTBD7

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 marked by developmental delays, neurological problems, and congenital abnormalities.

PIGN

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

ADAM15

ARL4A (ADP-Ribosylation Factor-Like 4A) is a protein belonging to the ADP-ribosylation factor (ARF) family of small GTPases. It plays an important 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

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 essential for the survival and activation of neutrophils, 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

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

DCDC2B (Doublecortin Domain Containing 2B) is a protein that belongs to the doublecortin family, known for its role in brain development. Proteins in this family contain doublecortin domains that bind to microtubules, helping guide neuronal migration and proper formation of the cerebral cortex. Proper function of DCDC2B is essential for normal brain development, and changes in this protein may be associated with neurological disorders and developmental issues.

DCDC2B

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.

DNAJB4 (DnaJ Heat Shock Protein Family (Hsp40) Member B4) is a co-chaperone protein that supports the proper folding, degradation, and assembly of other proteins in the cell. It plays a key role in managing cellular stress responses, especially during heat shock, helping to maintain cellular balance and protect cells from damage caused by stress.

DNAJB4

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

MMUT

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 an important role in maintaining the integrity of epithelial cells and may be linked to conditions like inflammatory bowel diseases (IBD), including Crohn’s disease.

DLG5

SLC26A8 (Solute Carrier Family 26 Member 8) is a gene that encodes a transporter protein primarily expressed in the testes. It plays a key role in anion transport and is essential for sperm motility and male fertility, contributing to proper sperm function and reproductive health.


SLC26A8

UNC119B (UNC-119 Homolog B) is a gene involved in the transport of proteins to cilia—specialized cellular structures essential for signaling and sensory functions. It plays a key role in the development and maintenance of photoreceptor cells in the retina. Disruption of UNC119B function can impair ciliary activity and may contribute to retinal disorders and vision loss.

UNC119B

CTDSPL2 (CTD Small Phosphatase Like 2) is a protein involved in regulating gene expression by modulating the activity of RNA polymerase II through dephosphorylation. This process affects transcriptional and post-transcriptional control, influencing cell cycle progression and differentiation. Although its precise functions are still being studied, CTDSPL2 plays an important role in cellular growth regulation and may be linked to disease processes such as cancer.

CTDSPL2

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.

IGF1R

GPSM1 (G Protein Signaling Modulator 1) is a gene involved in regulating G protein signaling pathways, which are essential for cellular responses to external signals. It plays a role in cell polarization and directional movement. GPSM1 has been studied for its potential involvement in cancer, particularly in tumor cell migration and invasion.

GPSM1

ADGRG6 (Adhesion G Protein-Coupled Receptor G6) is a receptor involved in cell adhesion and signal transduction. It plays an important role in key developmental processes, including the myelination of peripheral nerves and the development of the heart. Variations in ADGRG6 have been linked to developmental abnormalities, especially affecting the nervous and cardiovascular systems.

ADGRG6

AGMO (Alkylglycerol Monooxygenase) is a gene that encodes an enzyme involved in lipid metabolism, particularly in the breakdown of ether lipids. This enzyme contributes to the regulation of bioactive lipids, which influence cell signaling and inflammatory responses. Alterations in AGMO activity may be linked to lipid-related disorders and inflammatory conditions.

AGMO

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

KCTD9

CYP19A1, also known as aromatase, is an enzyme that facilitates the conversion of androgens (such as testosterone) into estrogens (such as estradiol). This enzyme plays a key role in estrogen biosynthesis, which is essential for sexual development, reproduction, bone metabolism, and cardiovascular health. CYP19A1 is expressed in multiple tissues, including the ovaries, testes, placenta, adipose tissue, and brain. In females, it is primarily responsible for producing estrogen in the ovaries by converting androgens from the adrenal glands.

CYP19A1

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

DIO3, or Type 3 Deiodinase, is an important enzyme that helps regulate thyroid hormone activity in the body. Found mainly in tissues such as the liver, brain, and placenta, DIO3 controls thyroid hormone levels by converting active hormones into inactive forms. This process helps adjust hormone signaling in specific tissues, ensuring proper metabolic regulation and maintaining balanced thyroid function.

DIO3

GDPD5 (Glycerophosphodiester Phosphodiesterase Domain Containing 5) is a gene involved in lipid metabolism, particularly in breaking down glycerophosphodiesters into glycerol phosphate and alcohol. This activity supports membrane component turnover and regulates intracellular signaling. GDPD5 plays a role in lipid signaling pathways, with potential implications in metabolic and cardiovascular health.

GDPD5

XKR9 (X-Kell Blood Group Precursor-Related Family Member 9) is a gene that belongs to the X-Kell blood group precursor-related family. While its precise functions remain unclear, ongoing research is investigating its potential roles in cell membrane dynamics and physiological processes.

XKR9

DIPK2A (Divergent Protein Kinase Domain 2A) is a gene thought to be involved in kinase activity, playing a potential role in cellular signaling pathways. Although not well studied, it may influence how cells communicate and regulate various biological processes.

DIPK2A

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 tumor development.

GAREM2

FOXK1 (Forkhead Box K1) is a transcription factor belonging to the forkhead box (FOX) family, characterized by a unique DNA-binding domain called the forkhead box. FOXK1 plays an essential role in controlling gene expression related to cell growth, proliferation, differentiation, and longevity. It is especially important in muscle development and regeneration, as well as in regulating metabolic functions. Due to its involvement in these critical processes, FOXK1 is also studied for its role in various diseases, including cancer.

FOXK1

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 biology and cancer progression.

DOCK9

DMBX1 (Diencephalon/Mesencephalon Homeobox 1) is a homeobox gene that plays a key role in early brain development, especially in the diencephalon and mesencephalon regions. It is essential for the formation and differentiation of various brain structures. Changes in DMBX1 expression or function may be linked to developmental brain disorders.

DMBX1

DACT1 (Dishevelled-Binding Antagonist of Beta-Catenin 1) is a protein involved in the Wnt signaling pathway, which is essential for regulating embryonic development, cell growth, and differentiation. By modulating Wnt signaling, DACT1 helps control key processes in tissue development and maintenance. Changes in DACT1 activity have been linked to various cancers, highlighting its importance in cell proliferation and making it a focus of cancer research.

DACT1

CST7 (Cystatin F) is a gene that encodes a protein inhibitor of cysteine proteases, important enzymes involved in protein breakdown. This protein helps regulate immune function by controlling protease activity in immune cells such as lymphocytes and macrophages, playing a key role in maintaining balanced immune responses.

CST7

APOA1 (Apolipoprotein A-I) is a gene that encodes the main protein component of high-density lipoprotein (HDL) in the blood. It plays a key role in cholesterol transport by helping remove excess cholesterol from tissues and delivering it to the liver for excretion. Variations in APOA1 can affect HDL levels and influence the risk of cardiovascular disease.



APOA1

DUSP15 (Dual Specificity Phosphatase 15) is a gene that encodes a phosphatase involved in regulating cell signaling by dephosphorylating specific target proteins. It plays a role in pathways related to cell growth and differentiation. While its precise functions are still being explored, DUSP15 may contribute to key cellular responses and signaling mechanisms.

DUSP15

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

DACH1

ADAM32 (ADAM Metallopeptidase Domain 32) is a member of the ADAM family of enzymes, which are known for their roles in cell adhesion and proteolytic processing of cell surface proteins. These enzymes contribute to important biological processes such as cell signaling, fertilization, and cell migration. While the specific functions of ADAM32 are still under investigation, it is believed to be involved in tissue remodeling, cell-cell interactions, and potentially reproductive functions.

ADAM32

C1D (Nuclear Nucleic Acid-Binding Protein C1D) is a gene that encodes a nuclear protein involved in binding nucleic acids and assembling ribonucleoprotein complexes. It plays a role in RNA processing and regulating transcription. C1D is also linked to DNA repair and may have important implications in cancer biology.


GPR26 (G Protein-Coupled Receptor 26) is an orphan receptor with an unclear ligand and physiological role. It is believed to be involved in central nervous system function, potentially influencing mood and behavior. Research indicates that GPR26 may be linked to neurological and psychiatric conditions, making it a focus of interest in neuroscience and drug discovery.

GPR26

NSUN3 (NOP2/Sun RNA Methyltransferase Family Member 3) is a gene that encodes an RNA methyltransferase involved in modifying mitochondrial tRNAs. This modification is important for proper mitochondrial protein synthesis and function. Mutations in NSUN3 have been linked to mitochondrial diseases.



NSUN3

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.


CNTNAP5

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.

SPATA5

EPM2A is a gene that encodes laforin, a phosphatase enzyme involved in glycogen metabolism. Laforin plays a key role in preventing the buildup of abnormal glycogen deposits known as Lafora bodies, which are toxic to neurons. Mutations in EPM2A lead to Lafora disease, a rare and fatal form of progressive myoclonus epilepsy. This highlights the essential role of EPM2A in maintaining neuronal health through metabolic regulation.



EPM2A

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

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

ADAMTS18

ANO3 (Anoctamin 3) is a gene that encodes a calcium-activated chloride channel involved in smooth muscle function and neurological processes. Mutations in ANO3 are linked to movement disorders such as dystonia, highlighting its role in neuromuscular signaling and muscle control.

ANO3

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.

CXCR4

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.

H3C12

The AGT gene plays a crucial role in regulating blood pressure and maintaining fluid balance in the body. Variations or mutations in the AGT gene can affect the risk of developing hypertension and other cardiovascular diseases. Understanding the function of AGT is important for managing these health conditions.



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.

CSMD3

DOK6 (Docking Protein 6) is a member of the DOK protein family that functions as a substrate and regulator of tyrosine kinases. It plays a key role in signaling pathways involved in nerve cell growth, differentiation, and function, with potential implications in neurological disorders.

DOK6

FCER1A (High Affinity Immunoglobulin E Receptor Subunit Alpha) is a gene that encodes a protein essential for allergic reactions. It binds to immunoglobulin E (IgE) and activates mast cells and basophils, triggering the release of histamine and other inflammatory mediators. This process contributes to allergy and asthma symptoms, making FCER1A a key target for therapies aimed at reducing allergic responses.

FCER1A

ADCY3 (Adenylate Cyclase 3) is a gene that encodes an enzyme responsible for converting ATP into cyclic AMP (cAMP), a crucial signaling molecule. ADCY3 plays an important role in regulating cellular processes such as neurotransmission and hormone signaling. It is also implicated in neuropsychiatric disorders and metabolic regulation.

ADCY3

SMIM21 (Small Integral Membrane Protein 21) is a gene that encodes a membrane protein with a still unclear role in cellular functions. It may be involved in signaling or transport processes within the cell, but further research is needed to understand its specific functions and potential impact on health and disease.



SMIM21

APBB1IP (Amyloid Beta Precursor Protein-Binding Family B Member 1 Interacting Protein), also known as RIAM, is a protein that plays a key role in integrin activation, which is essential for cell adhesion and migration. By connecting Rap1 GTPases to the actin cytoskeleton, APBB1IP supports cell attachment to the extracellular matrix, influencing immune cell function, wound healing, and tumor metastasis. Its involvement in these processes makes it important for research on immune regulation and cancer.

APBB1IP

H4C13 (Histone Cluster 4, H4C13) is a gene that encodes a component of histone H4, a core protein essential for chromatin structure in eukaryotic cells. Histones are key regulators of gene expression and DNA repair, playing a vital role in maintaining genomic stability.

H4C13

ADAM17 (A Disintegrin and Metalloproteinase 17) is an enzyme that regulates the release of membrane-bound proteins, such as growth factors, cytokines, and receptors. It plays an important role in cell signaling, inflammation, and tissue remodeling, and its dysregulation has been linked to conditions including arthritis, cancer, and cardiovascular disease.

ADAM17

ACVR1 (Activin Receptor Type 1) is a gene that encodes a receptor for activin, a protein involved in regulating cell growth and differentiation. This receptor plays a key role in signaling pathways that control how cells proliferate and develop. Mutations in ACVR1 are linked to fibrodysplasia ossificans progressiva (FOP), a rare genetic disorder marked by abnormal bone formation in soft tissues.

ACVR1

NUDT15 (Nudix Hydrolase 15) is an enzyme that plays a key role in the metabolism of thiopurine drugs, including azathioprine, mercaptopurine, and thioguanine. Genetic variations in NUDT15 can reduce its activity, increasing the risk of severe side effects such as bone marrow suppression. Testing for NUDT15 helps guide the appropriate thiopurine dosage to reduce toxicity and enhance treatment safety.



NUDT15

ADGRB1 (Adhesion G Protein-Coupled Receptor B1) is a protein that belongs to the adhesion G protein-coupled receptor family. Also known as BAI1, it plays important roles in processes such as clearing apoptotic cells (phagocytosis) and supporting synaptic development in the brain.

ADGRB1

IRS1 (Insulin Receptor Substrate 1) is a key signaling protein that helps mediate the body’s response to insulin and growth factors. Acting as an adaptor, IRS1 connects activated insulin receptors to various downstream pathways, regulating processes like glucose uptake, glycogen synthesis, protein production, and cell growth. Dysregulation of IRS1 is linked to insulin resistance, type 2 diabetes, and may also play roles in cancer and cardiovascular diseases.

IRS1

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 buildup of this compound. Dysfunction of D2HGDH is linked to D-2-hydroxyglutaric aciduria, a condition associated with symptoms such as developmental delays, epilepsy, and heart problems.

D2HGDH

BSN (Bassoon Presynaptic Cytomatrix Protein) is a gene that encodes a protein essential for organizing active zones at synaptic terminals. This protein supports neurotransmitter release and plays a key role in synaptic transmission and plasticity, which are critical for learning and memory. Changes in BSN function or expression may affect neurological health and have been linked to neuropsychiatric disorders.



SHPRH (SNF2 Histone Linker PHD RING Helicase) is a gene that encodes a DNA helicase involved in repairing DNA damage and maintaining genomic stability. It plays a key role in the DNA damage response by helping fix double-strand breaks, which prevents mutations that could lead to cancer. SHPRH is recognized as a tumor suppressor, with mutations linked to higher risks of various cancers.

SHPRH

GFI1 (Growth Factor Independent 1 Transcriptional Repressor) is a gene that encodes a transcriptional repressor involved in regulating hematopoiesis and immune function. It plays a key role in the development of neutrophils and T cells, as well as stem cell differentiation. Disruptions in GFI1 activity have been associated with immune deficiencies and blood-related cancers, highlighting its importance in immune and hematologic health.

GFI1

MICB (MHC Class I Polypeptide-Related Sequence B) is a gene that encodes a stress-induced protein involved in immune system activation. It serves as a ligand for the NKG2D receptor on natural killer (NK) cells and some T cells, helping the immune system recognize and respond to infected or transformed cells. MICB expression increases under conditions of cellular stress, such as viral infection or tumor development, promoting immune surveillance and targeted cell destruction.




ASCC3

IRX6 (Iroquois Homeobox 6) is a gene that encodes a transcription factor from the Iroquois homeobox family, known for its role in early embryonic development. It contributes to the formation and patterning of organs and tissues, particularly in the heart and craniofacial regions. Alterations in IRX6 may be linked to developmental abnormalities and are of interest in studies of congenital and craniofacial disorders.

IRX6

CXCR2 (C-X-C Motif Chemokine Receptor 2) is a receptor that binds C-X-C motif chemokines, such as CXCL5, and is mainly found on neutrophils. It plays a critical role in directing neutrophil movement and activation during inflammation. CXCR2 is involved in several pathological conditions, including inflammatory diseases, cancer, and chronic obstructive pulmonary disease (COPD), making it an important target for therapeutic treatments.

CXCR2

GSTM3 (Glutathione S-Transferase Mu 3) is a gene that encodes an enzyme from the glutathione S-transferase family, which is involved in detoxifying harmful compounds. It plays a key role in metabolizing carcinogens, drugs, and byproducts of oxidative stress. Variations in GSTM3 may influence individual susceptibility to cancer, neurodegenerative diseases, and other conditions related to detoxification pathways.

GSTM3

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.

ACAN

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