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The GetTested DNA Immunity & Inflammation test reveals your genetic tendencies towards inflammation, autoimmune diseases, allergies, and infections. By examining genes linked to conditions like CRP (inflammation), psoriasis, and gluten sensitivity (celiac disease), as well as your response to common allergens and pathogens, it offers a deep dive into how your immune system functions.

<p>The GetTested DNA Immunity & Inflammation test reveals your genetic tendencies towards inflammation, autoimmune diseases, allergies, and infections. By examining genes linked to conditions like CRP (inflammation), psoriasis, and gluten sensitivity (celiac disease), as well as your response to common allergens and pathogens, it offers a deep dive into how your immune system functions.</p>

DNA Immunity & Inflammation Test

ZBTB49 (Zinc Finger and BTB Domain Containing 49): ZBTB49 is a transcription factor that likely plays a role in gene regulation through DNA binding and chromatin remodeling. Members of the ZBTB family are involved in various cellular processes, including proliferation, differentiation, and development. While specific functions of ZBTB49 are not well-characterized, its participation in transcriptional regulation suggests it could impact cell fate decisions and has potential implications for cancer and developmental disorders....

ZBTB49

ACTN3: ACTN3, or Alpha-actinin-3, is a gene that encodes a protein primarily found in fast-twitch muscle fibers. These fibers are crucial for rapid and powerful muscle contractions, commonly associated with explosive athletic performance. Variations in this gene, particularly the R577X polymorphism, have been linked to differing capabilities in sprint and endurance activities, making it a gene of interest in sports genetics....

ACTN3

EPDR1 (Epidermal growth factor receptor pathway substrate 15-related protein 1): Similar to MMP15's role in extracellular matrix (ECM) dynamics, EPDR1 is implicated in cellular signaling pathways that regulate various physiological processes, including cell proliferation, survival, and differentiation. As a member of the epidermal growth factor receptor (EGFR) pathway substrate family, EPDR1 interacts with key signaling molecules involved in growth factor signaling cascades, modulating downstream signaling events. This protein plays a critical role in mediating cellular responses to extracellular stimuli, such as growth factors and cytokines, thereby influencing cell fate decisions and tissue homeostasis. Dysregulation of EPDR1 expression or activity has...

EPDR1

VWC2L (von Willebrand Factor C Domain Containing Protein 2 Like): VWC2L is a less-characterized protein with a von Willebrand factor C domain, typically involved in extracellular matrix interactions and cell adhesion processes. It might play a role in tissue development and integrity, but its specific functions in human physiology and pathology remain to be fully explored....




VWC2L

BLOC1S2 (Biogenesis of Lysosomal Organelles Complex-1, Subunit 2): BLOC1S2 is part of a protein complex involved in the biogenesis of lysosome-related organelles, such as melanosomes and platelet dense granules. Dysfunctions in BLOC1S2 can affect organelle formation and function, potentially leading to disorders related to pigmentation or blood clotting....



BLOC1S2

CHODL (Chondrolectin): CHODL encodes a protein that may be involved in cell adhesion and chondrocyte differentiation. Its exact function is not fully understood, but it may have roles in cartilage formation and musculoskeletal development....



CHODL

FLG (Filaggrin): FLG encodes a protein crucial for skin barrier function. Mutations in FLG are strongly associated with skin conditions like atopic dermatitis (eczema) and can increase the risk of other allergic diseases....

FCRL3 (Fc Receptor-Like 3): FCRL3 is a member of the Fc receptor-like (FCRL) gene family and is primarily expressed in B cells. It is involved in modulating B cell receptor signaling and antibody production. FCRL3 may play a role in regulating immune responses and autoimmune diseases....

FCRL3

EPAS1 (Endothelial PAS Domain Protein 1): Also known as HIF-2alpha, EPAS1 is a transcription factor that responds to low oxygen levels in tissues. It plays a significant role in the physiological adaptation to hypoxia, regulating genes involved in erythropoiesis, iron metabolism, and vascularization. EPAS1 is implicated in high-altitude adaptation and various diseases, including certain cancers....

EPAS1

ATP5PD (ATP Synthase Peripheral Stalk Subunit DAPIT): ATP5PD is a component of the mitochondrial ATP synthase, playing a role in cellular energy production. It is involved in the synthesis of ATP, the primary energy carrier in cells, and is crucial for maintaining mitochondrial function and overall cellular metabolism....




ATP5PD

SLC7A1 (Solute Carrier Family 7 Member 1): This gene encodes a transporter protein involved in the uptake of amino acids, particularly arginine and lysine. It's important in cell growth and nitric oxide synthesis. SLC7A1's role in immune responses and certain cancers makes it a focus in medical research....



SLC7A1

CHRNB3 (Cholinergic Receptor Nicotinic Beta 3 Subunit): CHRNB3 is another subunit of the nicotinic acetylcholine receptor, and like CHRNA4, is involved in cholinergic neurotransmission. Genetic variations in CHRNB3 are associated with nicotine dependence and related behavioral traits, highlighting its role in the addictive properties of nicotine and potential influence on neural circuitry involved in addiction....



CHRNB3

IGFBP3 (Insulin-Like Growth Factor Binding Protein 3): IGFBP3 encodes a protein that binds to insulin-like growth factors (IGFs), regulating their bioavailability. This regulation has a profound impact on cell growth, development, and metabolism. IGFBP3 is of particular interest in cancer research, as it can either inhibit or enhance the actions of IGFs, depending on cellular contexts, making it a key player in tumorigenesis and therapeutic strategies....

IGFBP3

ATP5MK (ATP Synthase Membrane Subunit K): ATP5MK is part of the mitochondrial ATP synthase complex, which is crucial for ATP production in cellular respiration. It plays a role in the energy metabolism of cells, and dysfunctions in ATP5MK can affect cellular energy levels, potentially contributing to metabolic disorders....

ATP5MK

SLC2A9 (Solute Carrier Family 2 Member 9): SLC2A9 encodes a transporter protein involved in urate transport in the kidneys. It plays a crucial role in regulating uric acid levels in the blood and is associated with gout susceptibility....



SLC2A9

ENOX1 (Ecto-NOX Disulfide-Thiol Exchanger 1): ENOX1 is involved in the transfer of electrons across the cell membrane and may play a role in cellular redox homeostasis. Its function is associated with cell growth regulation and the aging process, although its specific role in human physiology and pathology is not fully understood....

ENOX1

SSBP3 (Single Stranded DNA Binding Protein 3): SSBP3 is involved in DNA repair and replication processes. It binds to single-stranded DNA and may play a role in maintaining genomic stability. Its function is critical in cellular response to DNA damage and has potential implications in cancer biology....

SSBP3

CSF3R (Colony Stimulating Factor 3 Receptor): CSF3R is the receptor for colony-stimulating factor 3 (CSF3), a cytokine that controls the production, differentiation, and function of granulocytes. The interaction of CSF3 with its receptor is crucial for the survival and activation of neutrophils, essential components of the innate immune response. Mutations or overexpression of CSF3R can lead to disorders of granulocyte function and proliferation, including chronic neutrophilic leukemia and severe congenital neutropenias, highlighting its role in hematopoiesis and immune defense....



CSF3R

ARL4A (ADP-Ribosylation Factor-Like 4A): ARL4A is a member of the ADP-ribosylation factor (ARF) family of small GTPases. It participates in intracellular vesicle trafficking and membrane dynamics. ARL4A is involved in the regulation of membrane remodeling processes, including vesicle formation and membrane fusion events....

ARL4A

PIGN (Phosphatidylinositol Glycan Anchor Biosynthesis Class N): PIGN is involved in the biosynthesis of glycosylphosphatidylinositol (GPI) anchors, which are used to attach certain proteins to the cell membrane. GPI-anchored proteins play critical roles in cell adhesion, signal transduction, and immune response. Mutations in PIGN can lead to GPI anchor biosynthesis disorders, characterized by a wide range of symptoms including developmental delays, neurological issues, and congenital anomalies, reflecting the importance of GPI-anchored proteins in human physiology....

PIGN

BTBD7 (BTB Domain Containing 7): BTBD7 plays a key role in regulating epithelial-mesenchymal transition (EMT), a critical process in embryonic development, wound healing, and tumor metastasis. It functions by modulating the cytoskeletal architecture, thereby influencing cell shape, migration, and invasion. Dysregulation of BTBD7 has been linked to fibrosis and cancer progression, underlining its importance in tissue remodeling and its potential as a target for therapeutic intervention in fibrotic diseases and metastatic cancers....



BTBD7

ANAPC4 (Anaphase Promoting Complex Subunit 4): ANAPC4 is a component of the anaphase-promoting complex/cyclosome (APC/C), a key regulator of the cell cycle. It is involved in marking proteins for degradation, thus controlling the progression of cells through the cell cycle. Dysregulation of ANAPC4 can lead to cell cycle abnormalities, with potential implications for cancer development and progression....

ANAPC4

UNCX (Unc-4 Homeobox): UNCX encodes a homeobox-containing transcription factor involved in neuronal development and axon guidance. It plays a role in specifying neuronal identity and connectivity in the developing nervous system....




UNCX

ATP1B2, also known as Sodium/potassium-transporting ATPase subunit beta-2, is a protein that serves as a subunit of the sodium-potassium ATPase (Na+/K+-ATPase) pump. This pump is crucial for maintaining the electrochemical gradients of sodium and potassium ions across cell membranes, a process essential for numerous physiological functions, including nerve conduction, muscle contraction, and regulation of cell volume. As a subunit of the Na+/K+-ATPase pump, ATP1B2 plays an indispensable role in the assembly, stability, and function of the pump complex. It interacts with the catalytic alpha subunit of the pump, ATP1A1 or ATP1A2, and helps to anchor the complex to the cell membrane....

ATP1B2

B4GALT6, also known as Beta-1,4-galactosyltransferase 6, is a key enzyme involved in the biosynthesis of complex carbohydrates known as glycosaminoglycans (GAGs). Positioned primarily within the Golgi apparatus of cells, B4GALT6 plays a crucial role in catalyzing the transfer of galactose residues from UDP-galactose to acceptor substrates, leading to the formation of specific glycosidic linkages. One of the primary functions of B4GALT6 is its involvement in the biosynthesis of proteoglycans, a class of glycoproteins containing GAG chains. Specifically, B4GALT6 catalyzes the addition of galactose residues to the core protein structure of proteoglycans, initiating the assembly of GAG chains such as chondroitin sulfate...

B4GALT6

SLC6A2 (Solute Carrier Family 6 Member 2): SLC6A2, also known as the norepinephrine transporter, is responsible for the reuptake of norepinephrine into presynaptic nerve terminals. It is a target for certain antidepressants and plays a role in regulating mood and alertness. Dysfunctions in SLC6A2 are implicated in psychiatric and neurological disorders, including depression and attention deficit hyperactivity disorder (ADHD)....



SLC6A2

ATF7 (Activating Transcription Factor 7): ATF7 is a member of the ATF/CREB family of transcription factors and plays a pivotal role in cellular stress response, apoptosis, and development. It regulates the expression of genes involved in response to cellular stressors and contributes to neuronal differentiation and survival. Dysregulation of ATF7 activity has been linked to various stress-related conditions, including neurodegenerative diseases and cancer, underscoring its importance in maintaining cellular homeostasis and response to damage....

ATF7

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

ARL4C

WNK1 (WNK Lysine Deficient Protein Kinase 1): WNK1 is a serine/threonine kinase involved in regulating electrolyte balance and blood pressure. It affects sodium and potassium transport in the kidneys, influencing fluid balance and blood pressure. Mutations in WNK1 can lead to hereditary hypertension and electrolyte imbalances, making it a key gene in understanding certain forms of high blood pressure....




WNK1

SPATA2L (Spermatogenesis-associated protein 2-like): SPATA2L is a protein that shares sequence similarity with SPATA2, a known regulator of cell death and inflammation pathways. While the specific function of SPATA2L is still being elucidated, studies suggest its potential involvement in cellular processes such as apoptosis, autophagy, and immune response regulation. SPATA2L may play a role in modulating signaling pathways involved in cell survival and death decisions, similar to its homolog SPATA2. These pathways are critical for maintaining tissue homeostasis and responding to cellular stressors, such as DNA damage or infection. Dysregulation of SPATA2L expression or function could potentially impact these processes, leading...

SPATA2L

BAIAP2L1, also known as Brain-specific angiogenesis inhibitor 1-associated protein 2-like protein 1, is a protein encoded by the BAIAP2L1 gene. It belongs to the I-BAR domain-containing protein family and is involved in various cellular processes, including actin cytoskeleton remodeling, membrane dynamics, and cell signaling. One of the primary functions of BAIAP2L1 is its role in regulating actin dynamics and cytoskeletal organization. It contains an I-BAR (inverse Bin-Amphiphysin-Rvs) domain, which allows it to bind to and induce curvature in membranes, particularly at sites of membrane protrusions such as filopodia and lamellipodia. Through its ability to interact with actin filaments and membrane phospholipids,...




BAIAP2L1

FADS2 (Fatty Acid Desaturase 2): FADS2 is an enzyme involved in the biosynthesis of polyunsaturated fatty acids, which are essential components of cell membranes and precursors of signaling molecules. Variations in FADS2 can affect the metabolism of essential fatty acids and are linked to metabolic and inflammatory diseases....

FADS2

AS3MT (Arsenic (+3) Methyltransferase): AS3MT is a gene that encodes an enzyme responsible for methylating arsenic, a toxic metalloid. This methylation process is a detoxification mechanism that helps the body eliminate arsenic. AS3MT is important in arsenic metabolism and susceptibility to arsenic-related health issues....

AS3MT

EGR2 (Early Growth Response 2): EGR2 is a transcription factor involved in the regulation of neuronal and immune system development. It plays a crucial role in myelination in the peripheral nervous system and is implicated in the control of cell growth and differentiation. Mutations in EGR2 are associated with Charcot-Marie-Tooth disease and related neuropathies, highlighting its importance in neural development and function....

EGR2

ALG13 (Asparagine-Linked Glycosylation 13): ALG13 is a gene encoding a subunit of the UDP-N-acetylglucosaminyltransferase complex, involved in the early stages of glycosylation. Glycosylation is a critical post-translational modification process where carbohydrates are attached to proteins or lipids, affecting their folding, stability, and function. ALG13 plays a crucial role in the biosynthesis of the glycan precursor, essential for proper protein glycosylation in the endoplasmic reticulum. Mutations in the ALG13 gene have been linked to congenital disorders of glycosylation, which can result in a wide range of clinical symptoms, including developmental delay, epilepsy, and metabolic abnormalities. This highlights the gene's importance in...




ALG13

ARHGAP32 (Rho GTPase Activating Protein 32): ARHGAP32 is involved in the regulation of the Rho family of GTPases, key molecules in controlling cell shape, attachment, and motility. It plays a significant role in the dynamics of the actin cytoskeleton, affecting cellular processes like migration and proliferation. ARHGAP32's function is of interest in the context of neurological development and disorders, as well as in cancer, where cell migration and invasion are critical....

ARHGAP32

PLN (Phospholamban): Phospholamban is a regulatory protein primarily found in cardiac muscle cells, where it plays a crucial role in the regulation of cardiac contractility and relaxation. This small transmembrane protein modulates the activity of the sarcoplasmic reticulum calcium ATPase (SERCA), which is responsible for pumping calcium ions back into the sarcoplasmic reticulum during cardiac relaxation. By inhibiting SERCA at baseline conditions, PLN helps maintain calcium homeostasis and prevents excessive calcium uptake during diastole. However, upon stimulation, PLN is phosphorylated, relieving its inhibitory effect on SERCA and enhancing calcium reuptake, thereby promoting cardiac muscle relaxation and ensuring efficient cardiac function....

CHRNB2 (Cholinergic Receptor Nicotinic Beta 2 Subunit): CHRNB2 encodes a subunit of the nicotinic acetylcholine receptors, which are important for neuronal signaling. Mutations in this gene have been associated with epilepsy, particularly nocturnal frontal lobe epilepsy, underscoring its role in neuronal excitability and synaptic transmission....



CHRNB2

FDX1 (Ferredoxin 1): FDX1 plays a crucial role in mitochondrial electron transport, facilitating the transfer of electrons in various metabolic processes, including steroid hormone biosynthesis and detoxification reactions. It is a key component in the synthesis of iron-sulfur clusters, essential cofactors for many enzymes. Dysregulation of FDX1 has implications for energy metabolism and has been explored in the context of diseases related to mitochondrial function....

FDX1

WNT7B (Wnt Family Member 7B): WNT7B is part of the Wnt signaling pathway, playing a critical role in embryonic development, cell proliferation, and differentiation. This pathway is essential for the regulation of gene expression, cellular architecture, and tissue repair. Aberrant WNT7B signaling has been associated with various pathologies, including developmental disorders, fibrosis, and cancer, particularly in the regulation of tumor growth and metastasis, emphasizing its significance in cellular growth and disease progression....

WNT7B

BTN2A2 (Butyrophilin Subfamily 2 Member A2): BTN2A2 encodes a protein belonging to the butyrophilin family, which is involved in immune regulation. These proteins can modulate immune responses, particularly in the context of T-cell activation. BTN2A2 may play a role in regulating immune reactions and could impact the immune system's ability to respond to pathogens and antigens....



BTN2A2

SLC6A16 (Solute Carrier Family 6 Member 16): This gene encodes a transporter protein that is part of the solute carrier family. It is particularly important in the transport of amino acids and neurotransmitters in the nervous system. The function of SLC6A16 is critical in maintaining the balance of neurotransmitters, and its dysregulation can be implicated in neurological disorders....



SLC6A16

WSCD1 (WSC Domain Containing 1): WSCD1 is a relatively less-characterized gene and is believed to be involved in cell wall integrity and stress response in yeast. In humans, its precise function is not well established, but it may play a role in cellular responses to environmental stress. Understanding WSCD1's function could provide insights into mechanisms of cellular adaptation and survival under stress conditions....

WSCD1

BTN3A2 (Butyrophilin Subfamily 3 Member A2): BTN3A2 is part of the butyrophilin protein family, which is involved in the regulation of immune responses, particularly in T cell activation and differentiation. This protein plays a role in the modulation of immune surveillance and has been implicated in autoimmune diseases and cancer. Understanding the function of BTN3A2 and its interactions with other immune components is crucial for developing therapies targeting immune regulation....



BTN3A2

SIVA1 (SIVA1 Apoptosis-Inducing Factor): SIVA1 steps onto the stage as a conductor of cellular destiny, playing a role in the intricate symphony of programmed cell death, known as apoptosis. Its influence extends to the regulation of cell survival and death pathways, holding the balance between life and death within our cells. Researchers delve into the complexities of SIVA1's role in apoptosis, seeking to understand its contributions to cellular fate and disease....



SIVA1

EIF4G3 (Eukaryotic Translation Initiation Factor 4 Gamma 3): EIF4G3 plays a crucial role in the initiation phase of protein synthesis. As part of the eIF4F complex, it helps in recruiting ribosomes to mRNA for translation, facilitating the synthesis of proteins. EIF4G3's function is essential for cellular growth and differentiation, and dysregulation can impact protein production, potentially leading to diseases including cancers where protein synthesis is often dysregulated....

EIF4G3

FHIT (Fragile Histidine Triad Diadenosine Triphosphatase): FHIT is a tumor suppressor gene involved in purine metabolism. Loss or alteration of this gene has been linked to a variety of cancers, indicating its role in tumor suppression....

FHIT

AKR1A1 (Aldo-keto reductase family 1 member A1): AKR1A1, a member of the aldo-keto reductase family, plays a pivotal role in cellular detoxification and metabolism. This enzyme catalyzes the reduction of various aldehydes and ketones, contributing to the regulation of oxidative stress and the detoxification of xenobiotics. AKR1A1 is involved in crucial physiological processes such as the metabolism of glucose and steroids, as well as the synthesis of prostaglandins and neurotransmitters. Its activity is essential for maintaining cellular homeostasis and protecting against oxidative damage. Dysregulation of AKR1A1 has been implicated in several pathological conditions including cancer, diabetes, and neurodegenerative diseases. Understanding...

AKR1A1

GAD2 (Glutamate Decarboxylase 2): GAD2 is crucial for the synthesis of gamma-aminobutyric acid (GABA), an important neurotransmitter in the brain. It plays a role in the regulation of neuronal excitability and has been implicated in disorders such as epilepsy and anxiety disorders....

GAD2

ATG12 (Autophagy Related 12): ATG12 is a key gene involved in the process of autophagy, a cellular mechanism for degrading and recycling cellular components. This gene plays a crucial role in cellular maintenance and survival, particularly under stress conditions. It's involved in the formation of a conjugate with ATG5, which is essential for the autophagosome formation, a pivotal step in the autophagy pathway. Dysregulation of ATG12 has been linked to various diseases, including cancer and neurodegenerative disorders....




ATG12

FGGY (FGGY Carbohydrate Kinase Domain Containing): FGGY is a carbohydrate kinase involved in carbohydrate metabolism. Its exact role and functions are not fully elucidated, but carbohydrate kinases are known to be important in energy metabolism and may play roles in metabolic disorders....

FGGY

XKR6 (XK Related 6): XKR6 is a less-characterized member of the XK family of proteins, potentially involved in transmembrane transport. Its specific function and implications in human health are not fully understood....

XKR6

GRIN3A (Glutamate Ionotropic Receptor NMDA Type Subunit 3A): GRIN3A encodes a subunit of the NMDA receptor, a crucial component in synaptic plasticity and learning. As a part of the glutamate receptor family, NMDA receptors play a pivotal role in mediating neuronal communication. Their involvement in synaptic transmission and memory formation underscores their significance in neural function and neurological research....

GRIN3A

WNT7BWNT7B (Wnt Family Member 7B): WNT7B is integral to the Wnt signaling pathway, which regulates a wide array of developmental processes, including cell growth, differentiation, and apoptosis. WNT7B is particularly important in embryonic development and the regulation of bone growth and vascularization. Abnormal WNT7B signaling has been implicated in various pathologies, including developmental disorders, fibrosis, and cancer, especially in processes like tumor growth and the aberrant formation of blood vessels. Its involvement in fundamental cellular processes underscores WNT7B's critical role in development and disease....

CNTNAP5 (Contactin-Associated Protein-Like 5): CNTNAP5 is a gene associated with proteins that are part of the contactin-associated protein (CASPR) family. These proteins are involved in neural development and the formation of specialized cell-cell contacts in the nervous system. CNTNAP5 likely contributes to the organization of neural circuits and synaptic function....



CNTNAP5

C10ORF67 (Chromosome 10 Open Reading Frame 67): Also known as SASP, C10ORF67 is implicated in the regulation of cell proliferation and migration. Although its precise molecular function is not fully understood, it has been associated with the signaling pathways that contribute to cellular senescence and the senescence-associated secretory phenotype (SASP). Its role in these processes suggests potential implications for aging, cancer, and tissue regeneration studies....



C10ORF67

XXYLT1 (Xyloside Xylosyltransferase 1): XXYLT1 is involved in the post-translational modification of proteins through the addition of xylose to the serine residues of proteoglycans, a key step in the biosynthesis of glycosaminoglycan chains. This modification is crucial for the function of proteoglycans in the extracellular matrix, affecting cell signaling, adhesion, and migration. Mutations in XXYLT1 can disrupt proteoglycan function and have been linked to developmental abnormalities, underscoring its importance in cellular function and development....

XXYLT1

FFAR4 (Free Fatty Acid Receptor 4): FFAR4, also known as GPR120, is a receptor for omega-3 fatty acids and plays a significant role in metabolic regulation and inflammatory processes. It is involved in the regulation of insulin sensitivity, anti-inflammatory responses, and appetite control. Research suggests that FFAR4 is a potential therapeutic target for metabolic disorders like obesity and type 2 diabetes....

FFAR4

SHISA4 (Shisa Family Member 4): SHISA4 is involved in the regulation of synaptic function and neuronal excitability. It modulates the activity of key receptors in the central nervous system, including AMPA and NMDA receptors, and is implicated in the regulation of neuronal signaling and plasticity. Its role in synaptic modulation makes it a gene of interest in the study of neurological disorders and synaptic dysfunctions....



SHISA4

C11ORF21 (Chromosome 11 Open Reading Frame 21): C11ORF21 represents a gene with currently unknown specific functions. It is one of many genes that have been identified through genomic sequencing but whose roles in cellular processes and potential links to diseases are still under investigation. The study of such genes is part of ongoing research to uncover new aspects of human biology and pathology....



C11ORF21

WNT10A (Wnt Family Member 10A): WNT10A is involved in the Wnt signaling pathway, crucial for regulating cell fate determination, patterning, and morphogenesis. It plays a significant role in the development of skin, hair, teeth, and bones, with mutations leading to a range of developmental disorders....




WNT10A

ZMYM6 (Zinc Finger MYM-Type Containing 6): ZMYM6 is a zinc finger protein thought to be involved in transcriptional regulation and chromatin remodeling. It may play a role in gene expression regulation and has been studied in the context of hematological malignancies. The specific functions of ZMYM6 in normal physiology and disease are still being elucidated....

ZMYM6

DEF8 (Differentially Expressed in FDCP 8 Homolog): DEF8 is involved in endocytic trafficking and signal transduction pathways that regulate cellular growth and differentiation. It acts as a scaffold protein, mediating the interaction between components of signaling pathways and endosomes, which is crucial for the proper distribution and function of cell surface receptors. Dysregulation of DEF8 has been implicated in cancer and immune disorders, emphasizing its role in cellular signaling and membrane trafficking....

DEF8

C16ORF82 (Chromosome 16 Open Reading Frame 82): Also known as FAM173B, C16ORF82 is a lesser-known gene and is currently under research to fully understand its function. Preliminary studies suggest that it may be involved in mitochondrial processes, potentially impacting energy metabolism at the cellular level. Given its mitochondrial association, it could have implications in disorders related to mitochondrial dysfunction, although more research is needed to clarify its specific role....



C16ORF82

C12ORF43 (Chromosome 12 Open Reading Frame 43): C12ORF43 is a protein encoded by a gene located on chromosome 12 with an open reading frame that has been identified in genomic sequencing. While its precise function and role in cellular processes are still being elucidated, studies suggest potential involvement in various biological pathways. This protein may play a role in cellular metabolism, signal transduction, or protein-protein interactions, although further research is needed to fully understand its function. Dysregulation or mutations in C12ORF43 gene expression could potentially contribute to the development of certain diseases or disorders, but specific associations have not yet...



C12ORF43

DGKB (Diacylglycerol Kinase Beta): DGKB is an enzyme that converts diacylglycerol into phosphatidic acid, playing a critical role in lipid signaling pathways. It's involved in various cellular processes, including insulin sensitivity, and neurotransmitter signaling. Dysregulation of DGKB has been associated with metabolic disorders and is of interest in the study of diseases like diabetes and obesity....

DGKB

SORCS3 (Sortilin-Related VPS10 Domain Containing Receptor 3): SORCS3 is a member of the VPS10 domain-containing receptor family and plays a role in protein trafficking and sorting within cells. It is particularly important in the nervous system, where it regulates the trafficking of proteins involved in synaptic function. Dysregulation of SORCS3 has been linked to neurological disorders, including Alzheimer's disease and schizophrenia....



SORCS3

FZD4 (Frizzled Class Receptor 4): FZD4 is a gene that encodes a receptor for Wnt signaling molecules. The Wnt signaling pathway is essential for embryonic development, tissue homeostasis, and stem cell regulation. FZD4's role in this pathway makes it a key player in processes like cell fate determination and tissue regeneration....

FZD4

AXIN2 (Axin 2): AXIN2 is a crucial component of the Wnt signaling pathway, which is involved in cell proliferation, differentiation, and embryonic development. AXIN2 acts as a negative regulator of Wnt signaling, and mutations in this gene are associated with various cancers and developmental disorders, including colorectal cancer and tooth agenesis....

AXIN2

WDR70 (WD Repeat Domain 70): WDR70 is a gene that encodes a protein with a WD repeat domain, known for facilitating protein-protein interactions. This gene is implicated in various cellular processes, including cell cycle regulation and possibly RNA processing. The specific functions of WDR70 are not fully understood, but it's believed to play a role in cellular organization and function....




WDR70

SIPA1L3 (Signal-Induced Proliferation-Associated 1 Like 3): SIPA1L3 is a gene that plays a role in signal transduction and cellular proliferation. It is particularly important in the nervous system, where it contributes to synaptic regulation and neuronal signaling. Abnormalities in SIPA1L3 have potential implications in neurological disorders, possibly affecting cognitive functions and neurodevelopment....



SIPA1L3

ADAMTS8 (A Disintegrin And Metalloproteinase With Thrombospondin Motifs 8): ADAMTS8 is an enzyme that plays a role in the extracellular matrix's remodeling, crucial for tissue development and repair. It is involved in processes such as angiogenesis and can act as an anti-angiogenic factor, potentially inhibiting tumor growth and metastasis. The study of ADAMTS8 focuses on its implications in cancer and vascular diseases, exploring its function as a mediator in pathological processes....

ADAMTS8

FPR1 (Formyl Peptide Receptor 1): FPR1 is a receptor involved in immune responses, particularly in chemotaxis of neutrophils to sites of infection or inflammation. It recognizes formyl peptides, which are signals often associated with microbial invaders....

FPR1

ADAMTSL3 (ADAMTS-Like 3): ADAMTSL3 is part of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) family, proteins involved in extracellular matrix organization and cell-matrix interactions. It is implicated in the modulation of connective tissue structure and has been studied in relation to lung and eye development, as well as in certain connective tissue disorders....




ADAMTSL3

FN3KRP (Fructosamine 3 Kinase-Related Protein): FN3KRP is associated with fructosamine metabolism and may have a role in the regulation of glucose levels. It is related to the enzyme fructosamine 3 kinase and may have implications in glycation processes, which are involved in the formation of advanced glycation end-products (AGEs) and their impact on diabetes and aging-related diseases....

FN3KRP

ADAM10 (A Disintegrin and Metalloproteinase 10): ADAM10, a member of the ADAM (A Disintegrin And Metalloproteinase) family, is a transmembrane protease involved in diverse cellular processes such as cell adhesion, migration, and signaling. It functions primarily as a sheddase, cleaving the extracellular domain of various cell surface proteins, including growth factors, cytokines, adhesion molecules, and cell surface receptors. ADAM10-mediated proteolysis regulates crucial signaling pathways, including Notch, Eph, and cadherin signaling, influencing cell fate determination, tissue development, and homeostasis. Moreover, ADAM10 plays a pivotal role in synaptic plasticity and neurotransmission in the central nervous system. Dysregulation of ADAM10 activity has been...

ADAM10

SPATA32 (Spermatogenesis Associated 32): SPATA32 is primarily expressed in the testis and is believed to play a role in spermatogenesis. Its exact function in male reproductive health and fertility is not fully understood, but it is considered significant in the study of reproductive biology and potentially in fertility-related research and treatments....



SPATA32

SLC16A9 (Solute Carrier Family 16 Member 9): SLC16A9 is a member of the solute carrier family and is involved in transporting small molecules across cell membranes. Its specific substrate and functions are still being elucidated....



SLC16A9

GABPB1: GABPB1, or GA Binding Protein Transcription Factor Beta Subunit 1, is a gene involved in cellular transcription regulation. It encodes a subunit of a transcription factor that regulates genes implicated in cell growth and metabolism. Alterations in GABPB1 have been associated with different types of cancer, highlighting its role in cell proliferation and survival....

GABPB1

SLC1A1

DCDC2C (Doublecortin Domain-Containing Protein 2C): DCDC2C is a member of the doublecortin (DCX) family, which is involved in neuronal migration and axon guidance during brain development. DCDC2C's specific role in neuronal processes and its implications in neurodevelopmental disorders are areas of ongoing research....

DCDC2C

CTRC (Chymotrypsin C): CTRC is a gene encoding the enzyme chymotrypsin C, which is involved in the digestion of proteins in the pancreas. Mutations in this gene can lead to chronic pancreatitis, a condition characterized by inflammation and damage to the pancreas. Research on CTRC is vital for understanding pancreatic diseases and developing treatments for pancreatic dysfunction....

CTRC

ASB3 (Ankyrin Repeat and SOCS Box Protein 3): ASB3 is a protein that contains ankyrin repeats and a SOCS (Suppressor of Cytokine Signaling) box domain. It is involved in protein ubiquitination and degradation pathways. ASB3 plays a role in regulating the turnover of specific cellular proteins....




ASB3

SLC22A23 (Solute Carrier Family 22 Member 23): SLC22A23 belongs to a family of transporters that facilitate the movement of organic ions and small molecules across cell membranes. While the specific substrates and physiological roles of SLC22A23 are not well-established, it is thought to play a role in the transport of organic compounds in various tissues, potentially impacting drug disposition and metabolic processes....



SLC22A23

SLC24A4 (Solute Carrier Family 24 Member 4): SLC24A4 is involved in calcium and sodium ion transport, particularly in the formation of dental enamel and regulation of melanogenesis. Mutations in SLC24A4 are associated with amelogenesis imperfecta, a condition affecting tooth enamel, and may have implications in pigmentation disorders....



SLC24A4

ABCB4 (ATP Binding Cassette Subfamily B Member 4): ABCB4 is a gene encoding a transporter protein involved in the export of phospholipids from liver cells into bile. This gene is critical for maintaining the composition of bile and preventing the buildup of harmful compounds in the liver. Mutations in ABCB4 can lead to liver diseases, including cholelithiasis...

ABCB4

ERG (ETS Transcription Factor ERG): ERG is a member of the ETS transcription factor family and plays a key role in blood vessel development, hematopoiesis, and bone development. Aberrations in ERG have been implicated in the development of certain cancers, particularly prostate cancer and Ewing sarcoma....

RYR1 (Ryanodine Receptor 1): RYR1 is a gene that encodes a calcium channel protein essential for muscle contraction. Genetic variations in RYR1 are associated with malignant hyperthermia, a rare but life-threatening reaction to certain anesthetics and muscle relaxants. Testing RYR1 can help identify individuals at risk, allowing for alternative anesthesia choices and safer surgical procedures.

RYR1

SLC35F1 (Solute Carrier Family 35 Member F1): SLC35F1 is a member of the solute carrier family, specifically involved in the transport of nucleotide sugars across cellular membranes. This protein plays a crucial role in the intracellular trafficking and availability of nucleotide sugars, which are essential substrates for glycosylation processes. Glycosylation is a critical post-translational modification that affects protein folding, stability, and interactions, thereby influencing various physiological and pathological processes, including cell signaling, immune response, and cancer progression. The precise function of SLC35F1 in glycosylation underscores its importance in maintaining cellular homeostasis and the proper function of glycoproteins. Dysregulation or mutations...



SLC35F1

ADAMTSL1 (ADAMTS Like 1): ADAMTSL1 is a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) family and is known to be involved in extracellular matrix organization and cell-matrix interactions. While its exact physiological role is not fully understood, its structural similarity to metalloproteinases suggests a potential role in tissue remodeling and development. Dysfunctions in ADAMTSL1 or related proteins could impact processes like cell adhesion, migration, and angiogenesis, with potential implications in developmental disorders and various diseases involving the extracellular matrix....

ADAMTSL1

AKNA (AT-Hook Transcription Factor): AKNA is a transcription factor that plays a crucial role in the regulation of immune responses, particularly in the development and function of lymphoid cells. It is involved in modulating the expression of genes crucial for cell proliferation and differentiation within the immune system. Dysregulation of AKNA has been associated with autoimmune diseases and may play a role in the development of lymphomas, emphasizing its significance in immune regulation and cancer....

AKNA

STAT6 (Signal Transducer And Activator Of Transcription 6): STAT6 is critical for signaling pathways triggered by cytokines, particularly those involved in the immune response, such as IL-4 and IL-13, which are key mediators in the development of allergic inflammation. STAT6 activation leads to transcription of genes that promote Th2 cell differentiation, IgE production, and mast cell growth. Its role in allergic responses and asthma makes STAT6 a target for therapeutic interventions aiming to modulate immune reactions in allergic diseases....



STAT6

SLC24A2 (Solute Carrier Family 24 Member 2): SLC24A2 encodes a potassium-dependent sodium/calcium exchanger, which is important for calcium homeostasis in cells. It's particularly expressed in the retina and the brain, suggesting roles in neural function and vision. Mutations or dysfunction in SLC24A2 can have implications for neurological and visual disorders....



SLC24A2

ABHD2 (Abhydrolase Domain Containing 2): ABHD2 is a member of the serine hydrolase superfamily, involved in lipid metabolism and signaling. It acts on various lipid substrates, playing roles in regulating physiological processes such as sperm capacitation, muscle contraction, and thermogenesis. ABHD2's activity in modulating lipid signaling pathways highlights its potential involvement in metabolic disorders and its interest as a target for therapeutic interventions related to fertility, obesity, and metabolic diseases....




ABHD2

SPINK5 (Serine Peptidase Inhibitor, Kazal Type 5): SPINK5 is a crucial gene for skin integrity and immune response, encoding a serine protease inhibitor that regulates the activity of various enzymes in the skin. Mutations in SPINK5 are associated with Netherton syndrome, a severe skin disorder characterized by inflammation, scaling, and increased allergy susceptibility. Its study is vital for understanding skin diseases and developing potential treatments for disorders related to skin barrier dysfunction....



SPINK5

APOC1 (Apolipoprotein C-I): APOC1 is a component of the apolipoprotein family, playing a crucial role in lipid metabolism and transport. It is associated with very low-density lipoproteins (VLDL) and high-density lipoproteins (HDL), contributing to the regulation of triglyceride-rich lipoprotein metabolism. APOC1 acts as an inhibitor of lipoprotein lipase and hepatic lipase, enzymes essential for the hydrolysis of triglycerides, thereby influencing lipid levels in the plasma. Its involvement in lipid metabolism suggests a significant role in cardiovascular health, where dysregulation can lead to conditions such as hyperlipidemia, atherosclerosis, and consequently, cardiovascular disease. Beyond its metabolic functions, APOC1 has been implicated in...



APOC1

ADCY5 (Adenylate Cyclase 5): ADCY5 encodes an enzyme called adenylate cyclase 5, which is responsible for catalyzing the conversion of ATP to cyclic AMP (cAMP). cAMP is a key signaling molecule involved in various cellular processes, including neurotransmission and hormone signaling. ADCY5 plays a role in regulating these processes and has implications in neuropsychiatric disorders and metabolic pathways....

ADCY5

DIAPH3 (Diaphanous-Related Formin 3): DIAPH3 regulates the actin cytoskeleton and is involved in cell shape changes, migration, and adhesion. It has a role in cytoplasmic division during cell division and is associated with auditory neuropathy and other disorders involving cellular motility....

DIAPH3

GADL1 (Glutamate Decarboxylase Like 1): GADL1 is similar to glutamate decarboxylases that synthesize the neurotransmitter GABA, but its specific function is less clear. It may play a role in amino acid metabolism and neurotransmitter synthesis, and is of interest in the study of neurological function and disorders....

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