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Do you often find yourself feeling tired and drained, even after a full night’s sleep? Fatigue can take a toll on your daily life and overall well-being. But what if you could uncover the genetic factors contributing to your low energy levels? GetTested’s DNA Fatigue is a comprehensive analysis of 240 carefully selected genes that can shed light on the underlying causes of your fatigue.

<p>Do you often find yourself feeling tired and drained, even after a full night’s sleep? Fatigue can take a toll on your daily life and overall well-being. But what if you could uncover the genetic factors contributing to your low energy levels? GetTested’s DNA Fatigue is a comprehensive analysis of 240 carefully selected genes that can shed light on the underlying causes of your fatigue.</p>

DNA Fatigue Test

GetTested’s DNA Brain Health test provides a detailed genetic analysis of 288 genes to understand factors that affect your mental health. This at-home test examines specific genes related to memory, stress management, anxiety susceptibility, and mood swings, offering a comprehensive insight into how your unique genetic makeup impacts your mental well-being.

<p>GetTested’s DNA Brain Health test provides a detailed genetic analysis of 288 genes to understand factors that affect your mental health. This at-home test examines specific genes related to memory, stress management, anxiety susceptibility, and mood swings, offering a comprehensive insight into how your unique genetic makeup impacts your mental well-being.</p>

DNA Brain Health Test

NCOR1 (Nuclear Receptor Corepressor 1) is a protein that plays a key role in regulating gene expression and transcriptional repression. Located mainly in the cell nucleus, NCOR1 modulates the activity of nuclear receptors and other transcription factors. It functions as a corepressor for receptors such as thyroid hormone receptors (TRs), retinoic acid receptors (RARs), and peroxisome proliferator-activated receptors (PPARs). By recruiting histone deacetylases (HDACs) and other chromatin-modifying enzymes, NCOR1 helps form repressive chromatin structures, leading to reduced gene transcription.

NCOR1 

MICAL2 (Molecule Interacting with CasL 2): MICAL2 is an enzyme that belongs to the MICAL family, known for regulating cytoskeletal dynamics through the oxidation of actin. MICAL2 plays a key role in controlling actin filament disassembly, which affects cell shape, migration, and intracellular transport. Its activity is essential for processes such as neurite outgrowth, axon guidance, and the maintenance of synaptic and vascular structures. By modulating the cytoskeleton, MICAL2 supports cell communication, differentiation, and movement. Dysregulation of MICAL2 has been associated with cancer progression, neurological disorders, and vascular diseases.



MICAL2

ZNF584 (Zinc Finger Protein 584): ZNF584 is a member of the zinc finger protein family, typically involved in DNA binding and gene regulation. Although its specific functions are not fully defined, ZNF584 may contribute to transcriptional regulation, affecting various cellular processes and potentially influencing developmental pathways or disease mechanisms.

ZNF584

TMEM72 (Transmembrane Protein 72): TMEM72 is a transmembrane protein whose functions are not yet fully characterized. Like other transmembrane proteins, TMEM72 is believed to play roles in cellular signaling, transport, and communication. Its specific involvement in cellular processes and potential implications in human diseases are currently under investigation.

TMEM72

NDRG2 (N-Myc Downstream Regulated Gene 2): NDRG2 is a gene involved in regulating cell growth and differentiation. It functions as a tumor suppressor and plays a key role in stress responses and the inhibition of cell proliferation. NDRG2 is particularly important for brain and nervous system development, and its dysregulation has been linked to multiple types of cancer.

NDRG2

TNFRSF11B (Tumor Necrosis Factor Receptor Superfamily Member 11B): TNFRSF11B is a protein, also known as osteoprotegerin, that plays a key role in bone metabolism. It acts as a decoy receptor for RANKL, helping to inhibit osteoclast formation and prevent bone resorption. TNFRSF11B is essential for maintaining bone density and strength, and changes in its function are associated with osteoporosis and other bone disorders.

TNFRSF11B

TMPRSS4 (Transmembrane Protease, Serine 4): TMPRSS4 is a member of the transmembrane serine protease family, located on the cell surface and involved in activating proteins by cleaving peptide bonds. TMPRSS4 plays important roles in physiological and pathological processes, including cell migration, invasion, and the regulation of epithelial-mesenchymal transition (EMT), which is critical for development, wound healing, and cancer metastasis. Its overexpression has been linked to the progression of various cancers, making TMPRSS4 a potential biomarker for cancer diagnosis and prognosis.

TMPRSS4

MRPS18C (Mitochondrial Ribosomal Protein S18C): MRPS18C is a component of the mitochondrial ribosome, essential for mitochondrial protein synthesis. It plays a key role in producing proteins that are part of the mitochondrial respiratory chain. Dysfunction in MRPS18C can impact mitochondrial function and energy metabolism, potentially contributing to mitochondrial disorders.



MRPS18C

PAPPA (Pregnancy-Associated Plasma Protein A): PAPPA is a protease that regulates the availability of insulin-like growth factors (IGFs) by cleaving their binding proteins. It plays a crucial role in fetal development and is used as a biomarker in prenatal screening for aneuploidies. Abnormal levels of PAPPA are associated with adverse pregnancy outcomes, including preeclampsia and intrauterine growth restriction.



PAPPA

PAPLN (Pappalysin 1): PAPLN is a gene associated with pregnancy-associated plasma protein-A (PAPP-A). PAPP-A is involved in pregnancy-related processes and plays a key role in regulating insulin-like growth factor (IGF) signaling.

PAPLN

NEO1 (Neogenin 1): NEO1 is a cell surface receptor that reflects the balance of signals guiding key cellular processes, including cell adhesion, migration, and axon guidance. Belonging to the immunoglobulin superfamily, NEO1 plays essential roles in nervous system development, apoptosis regulation, and tissue homeostasis. Acting as a receptor for netrin-1 and other ligands, it directs axonal growth and neuronal migration critical for brain formation. Dysregulation or mutations in NEO1 have been linked to developmental disorders as well as cancer progression and metastasis.



NEO1

OR5H14 (Olfactory Receptor Family 5 Subfamily H Member 14): OR5H14 is part of the olfactory receptor (OR) gene family, which is responsible for detecting and binding odor molecules. These receptors play a key role in the sense of smell. The specific ligands and precise function of OR5H14 in olfaction are not yet fully understood, but it contributes to the complexity and diversity of smell perception.



OR5H14

PDE5A (Phosphodiesterase 5A): PDE5A is a gene that encodes an enzyme specifically targeting cyclic GMP (cGMP), a key second messenger in various biological processes. PDE5A plays an important role in regulating vascular smooth muscle, and its inhibitors are commonly used to treat erectile dysfunction and pulmonary hypertension. Research on PDE5A is significant for cardiovascular and urogenital health.



PDE5A

MTHFD2 (Methylenetetrahydrofolate Dehydrogenase 2): MTHFD2 is an enzyme that plays a key role in the mitochondrial one-carbon metabolic pathway. It is essential for nucleotide biosynthesis, methylation reactions, and amino acid homeostasis. MTHFD2 is highly expressed in rapidly dividing cells, including cancer cells, where it supports the production of purines and thymidylate, critical for DNA replication and repair. Its role in cellular metabolism and proliferation underscores its importance in growth and development, and its selective expression in tumors makes it a potential therapeutic target.



MTHFD2

MTHFD1 (Methylenetetrahydrofolate Dehydrogenase 1): MTHFD1 is a key enzyme in the folate metabolism pathway, catalyzing the conversion of tetrahydrofolate (THF) derivatives into forms used for the synthesis of DNA, RNA, and amino acids. It plays a vital role in one-carbon metabolism, influencing cellular methylation reactions and nucleotide production. Mutations or dysregulation of MTHFD1 can disrupt folate metabolism and are associated with an increased risk of congenital defects, cardiovascular diseases, and cancer.




MTHFD1

CLOCK (Circadian Locomotor Output Cycles Kaput): CLOCK is a gene that plays a key role in regulating circadian rhythms — the physical, mental, and behavioral changes that follow a 24-hour cycle. It helps control sleep-wake patterns and various physiological processes, including metabolism. Mutations in the CLOCK gene can disrupt normal circadian rhythms, contributing to sleep disorders, metabolic syndrome, and mood disturbances.

CLOCK

MAP3K10 (Mitogen-Activated Protein Kinase Kinase Kinase 10): MAP3K10 is a member of the MAP3K family, also known as MLK2 (Mixed Lineage Kinase 2). This kinase plays a key role in cellular signaling pathways that regulate cell proliferation, differentiation, and apoptosis. MAP3K10 acts as an upstream activator of the MAP kinase (MAPK) cascade, translating extracellular signals into cellular responses. It is essential for neuronal function, immune regulation, and stress response, and dysregulation of MAP3K10 has been linked to various physiological and pathological conditions.



MAP3K10

MFSD10 (Major Facilitator Superfamily Domain-Containing Protein 10): MFSD10 is a gene that encodes a protein involved in transport processes across cell membranes. While its specific function is still under investigation, MFSD10 may play a role in nutrient transport and the maintenance of cellular homeostasis.

MFSD10 

ARHGAP27 (Rho GTPase Activating Protein 27): ARHGAP27 is a protein that reflects the regulation of actin cytoskeleton dynamics, cell morphology, and motility through its control of Rho GTPases. These GTPases are essential regulators of cellular processes including vesicle trafficking, cell cycle progression, and gene transcription. ARHGAP27’s role in modulating cell adhesion and migration is particularly important for tissue development, wound healing, and processes such as tumor progression and metastasis.




ARHGAP27

MRPS31 (Mitochondrial Ribosomal Protein S31): MRPS31 is a component of the mitochondrial ribosome, essential for mitochondrial protein synthesis. It plays a key role in producing proteins required for proper mitochondrial function and energy generation. Defects in MRPS31 can result in mitochondrial disorders that impact multiple body systems.



MRPS31

MUC1 (Mucin 1): MUC1 is a gene that encodes a glycoprotein present on the surface of various epithelial cells, including those lining the respiratory and digestive tracts. It plays important roles in protection, lubrication, and cell signaling. Abnormal expression of MUC1 is linked to the development of several cancers.



MUC1

TIMP4 (TIMP Metallopeptidase Inhibitor 4): TIMP4 is a protein that regulates metalloproteinases, enzymes responsible for breaking down components of the extracellular matrix. TIMP4 plays a key role in tissue remodeling and is important for processes such as wound healing and angiogenesis.



TIMP4

NRG1 (Neuregulin 1): NRG1 is a signaling protein that plays a key role in neural development and synaptic plasticity. It is essential for the proper formation and function of the nervous system and has been associated with various neurological and psychiatric disorders, including schizophrenia.



NRG1

PDE3B (Phosphodiesterase 3B): PDE3B is an enzyme that plays a key role in regulating lipid and glucose metabolism. It is involved in breaking down cyclic AMP (cAMP), a signaling molecule, thereby influencing processes such as lipolysis and insulin secretion. Dysregulation of PDE3B has implications for metabolic disorders, including obesity and diabetes.



PDE3B

ORM1, also known as Orosomucoid 1 or Alpha-1-acid glycoprotein 1, is a glycoprotein primarily produced in the liver and released into the bloodstream. It is part of the acute-phase reactant proteins, which are synthesized in response to inflammation, infection, or tissue injury. ORM1 plays a key role in modulating the immune response and inflammation. During acute-phase reactions, its production is increased by pro-inflammatory cytokines, such as interleukin-6 (IL-6) and tumor necrosis factor-alpha (TNF-α). ORM1 helps regulate inflammation by binding to various molecules, including drugs, hormones, and lipids, and influencing their distribution.



ORM1

TTYH2 (Tweety Family Member 2): TTYH2 is a gene that encodes a protein belonging to the Tweety family. This protein is known to have ion channel activity, particularly involving chloride ions. Proteins in the Tweety family play important roles in ion transport across cell membranes, contributing to cellular homeostasis, regulation of cell volume, and maintenance of ion balance. While the full functions of TTYH2 are still under investigation, it may have significant roles in cellular physiology.




TTYH2

OLFM4 (Olfactomedin 4): OLFM4 is a gene that encodes a secreted protein expressed in various tissues, including the gastrointestinal tract. While its functions are not fully understood, OLFM4 is associated with the regulation of stem cell proliferation and differentiation in the gut, indicating a potential role in tissue regeneration and maintenance.



OLFM4

MCUR1 (Mitochondrial Calcium Uniporter Regulator 1): MCUR1 is a gene that reflects the regulation of the mitochondrial calcium uniporter (MCU), a protein complex responsible for calcium uptake into mitochondria. MCUR1 plays a key role in maintaining proper mitochondrial calcium levels, which are essential for energy production, cell survival, and overall mitochondrial function.



MCUR1

MYO18A (Myosin XVIIIA): MYO18A is a protein that reflects a unique type of myosin in the body. It plays important roles in cytoskeleton organization and cell migration, contributing to muscle development and function. Abnormalities in MYO18A are associated with muscle disorders and may be linked to certain forms of cancer.


MYO18A

MYEOV (Myeloma Overexpressed Gene): MYEOV is a gene that is often overexpressed in multiple myeloma and other cancers. It is thought to contribute to cancer cell proliferation and survival, making it a potential target for cancer therapy.



MYEOV

P2RY12 (Purinergic Receptor P2Y12): P2RY12 is a receptor for adenosine diphosphate (ADP) that plays a key role in platelet aggregation — an essential process in blood clot formation. It is a primary target for antiplatelet drugs used to prevent thrombosis in cardiovascular diseases. Understanding P2RY12 is important for maintaining cardiovascular health and managing clotting disorders.



P2RY12

MYBPC3: The MYBPC3 gene encodes cardiac myosin-binding protein C, a key regulator of heart muscle contraction. Variants in this gene are a frequent cause of hypertrophic cardiomyopathy, a major contributor to sudden cardiac death, particularly in young athletes. It plays a critical role in maintaining normal cardiac muscle structure and function.


MYBPC3

MAP4K1 (Mitogen-Activated Protein Kinase Kinase Kinase Kinase 1): MAP4K1 is a signaling protein, also known as HPK1 (Hematopoietic Progenitor Kinase 1), and a member of the STE20 kinase family. It plays an important role in immune cell signaling, regulating T cell activation and differentiation by acting upstream in the MAP kinase pathway. Through its role in modulating immune responses, MAP4K1 is considered a potential target for immunotherapy, particularly in autoimmune disorders and cancer.

MAP4K1

RAB11FIP2 (RAB11 Family Interacting Protein 2): RAB11FIP2 is a protein involved in intracellular trafficking, specifically in recycling proteins and membranes from the endocytic recycling compartment. It plays a vital role in maintaining cellular homeostasis and ensuring proper membrane traffic, influencing processes such as signal transduction and immune responses.

RAB11FIP2

TWIST1 (Twist Family BHLH Transcription Factor 1): TWIST1 is a gene that encodes a protein essential for embryonic development, particularly in guiding mesenchymal cell lineage determination. It is involved in craniofacial formation and is associated with Saethre-Chotzen syndrome — a congenital condition marked by craniosynostosis.




TWIST1

NCLN (Nicalin): NCLN is a protein that forms part of a complex regulating intracellular signaling pathways essential for development. It plays a critical role in modulating Notch signaling — a pathway controlling cell differentiation, proliferation, and apoptosis. Disruption of NCLN or related pathways can contribute to developmental disorders and various diseases, including cancer, highlighting its importance in cellular communication and overall developmental processes.



NCLN

REX1BD (REX1 Basic Domain): REX1BD is a gene region characterized by a basic domain that may contribute to DNA binding or protein–protein interactions. While its exact functions and roles in cellular processes are not yet fully understood, ongoing research aims to clarify its significance in biological systems.



REX1BD

NR3C1 (Nuclear Receptor Subfamily 3 Group C Member 1): NR3C1 is a gene that encodes the glucocorticoid receptor, which mediates the actions of glucocorticoids — a class of steroid hormones. This receptor is essential for regulating stress responses, immune activity, and metabolism. Dysregulation of NR3C1 has been linked to stress-related disorders, inflammatory conditions, and metabolic diseases, making it a key player in the body’s adaptation to stress and inflammation.


NR3C1

MSRB2 (Methionine Sulfoxide Reductase B2): MSRB2 is an enzyme that helps repair oxidized methionine residues in proteins, safeguarding cells from oxidative stress and preserving protein function. It is a key component of the body’s antioxidant defense system, supporting cellular resilience against environmental challenges. Studies on MSRB2 explore its potential links to aging, neurodegenerative disorders, and other conditions associated with oxidative damage.



MSRB2

NCR3 (Natural Cytotoxicity Triggering Receptor 3): NCR3 is a gene that encodes a receptor found on natural killer (NK) cells and certain T cells. It is involved in identifying and targeting infected or abnormal cells for destruction, playing a key role in the innate immune defense against viruses and tumor cells.

NCR3

MOV10L1 (Moloney leukemia virus 10-like protein 1): MOV10L1 is an RNA helicase that plays a key role in RNA metabolism and post-transcriptional regulation. It participates in processes such as RNA interference, RNA degradation, and mRNA translation by unwinding RNA duplexes and aiding in the removal of target RNAs. MOV10L1 helps control gene expression, restrict retroviruses and retrotransposons, and maintain genome stability, with dysregulation linked to various biological and disease processes.


MOV10L1

NUP62CL (Nucleoporin 62 C-Terminal Like): NUP62CL is a gene that encodes a component of the nuclear pore complex — a key structure in the nuclear envelope that controls the movement of molecules between the nucleus and cytoplasm. Changes in NUP62CL can disrupt nuclear transport and may be linked to neurodegenerative disorders and certain cancers.



NUP62CL

TMPRSS6 (Transmembrane Serine Protease 6): TMPRSS6 is a protein that plays a key role in regulating iron metabolism, primarily through the control of hepcidin — the hormone that governs iron absorption. Mutations in TMPRSS6 can cause iron-refractory iron deficiency anemia (IRIDA), a form of anemia that does not improve with oral iron supplementation.




TMPRSS6

RFC4 (Replication Factor C Subunit 4): RFC4 is a component of the replication factor C complex, essential for DNA replication and cell cycle regulation. It facilitates the loading of DNA polymerases onto DNA during replication and repair. Dysregulation of RFC4 can lead to genomic instability and is associated with cancer development.

RFC4

RADX (RADX DNA Repair Helicase): RADX is a protein that plays a key role in DNA repair, particularly in preserving genomic stability during DNA replication. It is involved in the cellular response to DNA damage and helps prevent genomic instability — a major contributor to cancer development. RADX is an important focus in understanding DNA repair mechanisms and advancing cancer research.

RADX

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 associated with cancer development and progression.




RALGDS

ANKK1 (Ankyrin Repeat and Kinase Domain Containing 1): ANKK1 is a gene associated with signal transduction and may play a role in regulating dopamine receptors, which are essential for brain function. Variants near ANKK1 have been linked to neuropsychiatric disorders and addiction, potentially due to their impact on dopamine signaling.

ANKK1

TMEM51 (Transmembrane Protein 51): TMEM51 is a protein associated with membrane organization and intracellular trafficking. While its precise functions remain unclear, it is thought to be involved in intracellular transport and cell signaling pathways.

TMEM51

TMEM258 (Transmembrane Protein 258): TMEM258 is a component of the oligosaccharyltransferase complex, which is involved in N-linked glycosylation — a critical process for proper protein folding and stability. It plays a role in maintaining endoplasmic reticulum function and may be linked to various physiological processes and diseases associated with protein misfolding.




TMEM258

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



PSAP

OPTC (Opticin): Opticin is a glycoprotein located primarily in the vitreous humor of the eye. It plays an important role in maintaining the structural integrity of the vitreous body and may be involved in ocular development as well as certain eye diseases.



OPTC

SERINC2 (Serine Incorporator 2): SERINC2 is a protein from the SERINC family that facilitates the incorporation of serine into membrane lipids, supporting the biosynthesis and stability of cellular membranes. It plays key roles in maintaining membrane fluidity, regulating signaling pathways, and contributing to immune function. By influencing membrane composition, SERINC2 affects cell proliferation, differentiation, and programmed cell death, making it essential for cellular health and physiological balance.



SERINC2

RARB (Retinoic Acid Receptor Beta): RARB is a nuclear receptor that binds retinoic acid, a metabolite of vitamin A. It plays a key role in regulating gene expression during development, especially in epithelial tissue growth, cell differentiation, and nervous system formation. Altered RARB activity has been associated with cancers such as skin, lung, and breast, as well as developmental disorders, and is under investigation for potential retinoid-based therapies.



RARB

OR13F1 (Olfactory Receptor, Family 13, Subfamily F, Member 1): OR13F1 is a protein that belongs to the olfactory receptor gene family — a group of G protein-coupled receptors involved in detecting odors. These receptors are found in the olfactory epithelium, where they bind specific odor molecules and trigger signal pathways that result in the perception of smell. While the exact ligands and functions of OR13F1 are not yet fully understood, it plays a role in our sense of smell and may also be involved in pheromone detection.



OR13F1

NOS1 (Nitric Oxide Synthase 1): NOS1 is an enzyme that produces nitric oxide (NO), a key signaling molecule in the body. It is essential for neurotransmission, regulation of vascular tone, and modulation of immune responses. In the nervous system, NOS1 supports neuronal communication and plasticity. Imbalances in NOS1 activity have been linked to neurological disorders, cardiovascular diseases, and inflammatory conditions.



NOS1

MRPS9 (Mitochondrial Ribosomal Protein S9): MRPS9 is a component of the mitochondrial ribosome, essential for the synthesis of proteins within mitochondria. It plays a vital role in producing proteins required for mitochondrial function and energy generation. Impairments in MRPS9 can reduce mitochondrial efficiency and may be associated with mitochondrial disorders, influencing overall cellular energy metabolism.



MRPS9

NCF4 (Neutrophil Cytosolic Factor 4): NCF4 is a component of the NADPH oxidase complex that plays a key role in the body’s immune defense. It helps regulate the assembly and activation of this complex, enabling the production of reactive oxygen species (ROS) during the oxidative burst in phagocytes. This process is essential for destroying engulfed pathogens, and mutations in NCF4 can impair immunity, leading to greater susceptibility to infections.

NCF4

C8ORF37 (Chromosome 8 Open Reading Frame 37): C8ORF37 is a gene linked to retinal dystrophies and Bardet-Biedl syndrome — a condition marked by vision loss, obesity, and other symptoms. It plays a key role in maintaining photoreceptor cells and supporting cilia-related processes. Mutations in this gene can cause retinal degeneration and disrupt normal ciliary function.



C8ORF37

TGM2 (Transglutaminase 2): TGM2 is a multifunctional enzyme that catalyzes the cross-linking of glutamine and lysine residues in proteins, a key post-translational modification. It participates in essential cellular processes such as apoptosis, cell differentiation, and tissue repair by stabilizing and remodeling the extracellular matrix. TGM2 is implicated in various disease pathways, including neurodegenerative disorders, fibrotic diseases, and certain cancers, where altered activity can drive disease progression. It also plays a role in immune responses, notably in celiac disease.


TGM2

ADARB2 (Adenosine Deaminase RNA-Specific B2): ADARB2 is an enzyme in the adenosine deaminase family involved in RNA editing. It catalyzes the conversion of adenosine to inosine in RNA molecules, a post-transcriptional modification that can alter RNA sequences, affecting their structure, function, and regulation of gene expression.




ADARB2

PSCA (Prostate Stem Cell Antigen): PSCA is a cell surface protein found in certain tissues, including the prostate. It has been studied for its potential role in prostate cancer, where it may function as a biomarker and a possible target for therapy.




PSCA

RGMA (Repulsive Guidance Molecule A): RGMA is a protein that regulates axon guidance during neural development. It plays a key role in directing neuronal migration and axon growth through repulsive signaling pathways. RGMA is essential for the formation of neural circuits and is linked to certain neurodevelopmental disorders.




RGMA

FMN2 (Formin 2): FMN2 is a protein involved in cytoskeletal regulation, particularly in the formation of actin filaments. It plays a key role in cell division, movement, and morphogenesis, supporting the structural integrity and dynamic remodeling of the cytoskeleton. FMN2 is essential during cell division and nervous system development, and mutations in the FMN2 gene have been linked to impaired sperm motility, infertility, and certain developmental disorders.


FMN2

QSOX2, also known as Quiescin Sulfhydryl Oxidase 2, is an enzyme that plays a key role in the oxidative folding of proteins, especially those with multiple disulfide bonds. Located mainly in the endoplasmic reticulum (ER) of cells, QSOX2 is essential for maintaining protein structure and function by catalyzing disulfide bond formation between cysteine residues. This activity supports proper protein folding, stability, and secretion, acting as a thiol oxidase that transfers electrons from reduced cysteines to molecular oxygen.




QSOX2

MICB (MHC Class I Polypeptide-Related Sequence B): MICB is a stress-induced ligand for the NKG2D receptor, which is expressed on natural killer (NK) cells, CD8+ T-cells, and certain γδ T-cells. The interaction between MICB and NKG2D is essential for immune surveillance, helping the body recognize and eliminate malignant or infected cells. Upregulation of MICB on stressed, transformed, or infected cells can activate an immune response, leading to targeted cell destruction. Therefore, MICB plays a key role in defense against cancer and viral infections.



MICB

APP (Amyloid Precursor Protein): APP is a measure that reflects the role of a key transmembrane protein involved in various cellular processes, especially in the central nervous system. APP is essential for neuronal development, synaptic plasticity, and cell signaling. Its processing produces amyloid-beta peptides, which are linked to the development of Alzheimer's disease. Proper regulation of APP processing and amyloid-beta production is critical for maintaining neuronal health and cognitive function, while dysregulation can contribute to Alzheimer's pathology.

Ric3 (Resistance To Inhibitors Of Cholinesterase 3 Homolog): Ric3 is a protein involved in the maturation and trafficking of nicotinic acetylcholine receptors, which are essential for neuronal signaling. Ric3 plays a key role in the development and maintenance of the nervous system, and alterations in its function can have implications for neurological diseases.

Ric3

SDK1 (Sidekick Cell Adhesion Molecule 1): SDK1 is a protein that plays a key role in cell adhesion and synaptic organization. It is important for the formation of neural circuits, especially in the visual system, and contributes to proper neural connectivity and communication.




SDK1

RSPO3 (R-Spondin 3): RSPO3 is a member of the R-spondin family that modulates the Wnt signaling pathway, which is essential for embryonic development and cell growth. It plays key roles in processes such as vascular development and stem cell proliferation. Dysregulation of RSPO3 has been associated with conditions including cancer.

RSPO3

RAB38 is a member of the Ras-related protein family and acts as a key regulator of intracellular membrane trafficking, particularly within the endosomal-lysosomal system. Primarily located in the cytoplasm, RAB38 coordinates the movement and fusion of membrane-bound vesicles, ensuring proper sorting and delivery of cargo molecules. This protein plays a specialized role in melanosome biogenesis, supporting the maturation and transport of melanosomes — organelles responsible for melanin synthesis and distribution in melanocytes. Through its interactions with effector proteins and membrane fusion machinery, RAB38 facilitates these critical cellular processes.




RAB38

RBPJ (Recombination Signal Binding Protein For Immunoglobulin Kappa J Region): RBPJ is a key transcription factor in the Notch signaling pathway, which plays a critical role in regulating cell fate, differentiation, and development. Proper function of RBPJ is essential for tissue development and cell specialization, while dysregulation of RBPJ and Notch signaling is associated with various diseases, including cancers and developmental disorders.

RBPJ

SCARB1 (Scavenger Receptor Class B Member 1): SCARB1 is a protein that plays a key role in the selective uptake of cholesterol esters from high-density lipoprotein (HDL) particles. It is essential for lipid metabolism and reverse cholesterol transport. Variants in SCARB1 can affect cholesterol levels and have been linked to cardiovascular disease risk.



SCARB1

LRFN5 (Leucine Rich Repeat and Fibronectin Type III Domain Containing 5): LRFN5 is a member of the LRFN family of proteins. It is involved in neuronal development and synaptic function, playing a role in the formation and maintenance of neural circuits. Dysfunctions in LRFN5 may contribute to neurodevelopmental disorders.

LRFN5

MTRR (Methionine Synthase Reductase): MTRR is an enzyme that plays a critical role in regenerating methylcobalamin, supporting the continuous function of MTR in homocysteine metabolism. It is essential for maintaining proper methionine levels and normal DNA synthesis. Mutations in MTRR are linked to homocystinuria, which can contribute to developmental and neurological complications. Understanding MTRR function provides insights for potential therapies for genetic disorders.


MTRR

SCAMP5 (Secretory Carrier Membrane Protein 5): SCAMP5 is a member of the SCAMP family, involved in membrane trafficking processes. It plays a key role in regulating membrane recycling and exocytosis, especially in neurons. SCAMP5 is important for neurotransmitter release and neuronal communication, and its function may have implications in neurological disorders.




SCAMP5

PREP (Prolyl Endopeptidase): PREP is an enzyme that reflects the activity of a serine protease involved in breaking down proline-containing peptides. It plays an important role in the metabolism of neuropeptides and peptide hormones, contributing to cognitive processes and the inflammatory response. Changes in PREP activity have been associated with neurological disorders, including Alzheimer's disease, highlighting its role in neurodegeneration and cognitive function.

PREP

RPL39 (Mitochondrial Ribosomal Protein L39): MRPL39 is a gene that encodes a protein component of the mitochondrial ribosome, essential for mitochondrial protein synthesis. This process supports the production of mitochondrial respiratory chain components, which are critical for cellular energy generation. MRPL39 plays a key role in mitochondrial function, and its dysfunction may contribute to disorders affecting energy metabolism, including neurodegenerative, muscular, and metabolic diseases.

MRPL39

LRATD1 (Lecithin Retinol Acyltransferase Domain Containing 1): LRATD1 is a gene that encodes a protein with a domain similar to lecithin retinol acyltransferase (LRAT), an enzyme involved in vitamin A metabolism. While its exact functions remain under investigation, LRATD1 is thought to play a role in processes related to vitamin A utilization and regulation.

LRATD1

TNFRSF13B (Tumor Necrosis Factor Receptor Superfamily Member 13B): TNFRSF13B, also known as TACI, is a receptor for the cytokines BAFF and APRIL. Both play key roles in B cell development and function. Mutations in TNFRSF13B have been linked to common variable immunodeficiency (CVID) and selective IgA deficiency, highlighting its importance in humoral immunity. Research on TNFRSF13B focuses on understanding its role in immune dysregulation and autoimmune diseases.




TNFRSF13B

TNFSF12 (Tumor Necrosis Factor Ligand Superfamily Member 12, TWEAK):TNFSF12 is a cytokine that belongs to the TNF superfamily and is involved in regulating immune responses, inflammation, tissue homeostasis, and cell death. It can act as both a pro-inflammatory and anti-inflammatory signal, influencing the production of cytokines and chemokines, recruiting immune cells, and modulating the activity of endothelial and other target cells.

TNFSF12

TPGS2 (Tocopherol (Alpha) Transfer Protein-Like): TPGS2 is a gene that encodes a protein involved in the metabolism and transport of vitamin E within cells. It contributes to antioxidant defense and cell signaling, and plays a role in maintaining the health of the nervous system and other vitamin E-sensitive pathways.

TPGS2

NTSR2 (Neurotensin Receptor 2): NTSR2 is a G protein-coupled receptor that binds neurotensin, a neurotransmitter involved in central nervous system functions such as analgesia, thermoregulation, and modulation of dopamine signaling. Activation of NTSR2 influences neural activity and has been linked to the pathophysiology of psychiatric disorders, making it a potential target for therapies in schizophrenia, mood disorders, and pain management.

NTSR2

OOSP1 (Oocyte Secreted Protein 1): OOSP1 is a gene that encodes a protein predominantly expressed in oocytes and involved in early embryonic development. It may play a role in oocyte maturation and in regulating processes during fertilization and the initial stages of embryogenesis. Its function is important for reproductive health and successful embryonic development.

OOSP1

PTER (Phosphotriesterase-related protein): PTER is a protein that plays a key role in cellular detoxification and metabolism regulation. As a member of the phosphotriesterase-related protein family, PTER is involved in breaking down chemical compounds, including organophosphate pesticides and nerve agents. Its enzymatic activity helps protect cells from chemical damage, and it is also implicated in cellular signaling and metabolic processes. Dysregulation of PTER expression or activity can increase susceptibility to chemical toxicity and metabolic disturbances.




PTER

SCFD1 (Sec1 Family Domain Containing 1): SCFD1 is a gene that encodes a protein involved in vesicle trafficking, particularly in the transport of secretory proteins. It plays a role in regulating vesicle docking and fusion, which is essential for proper cellular function and intercellular communication.

SCFD1

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




POCD5

TNFSF10 (Tumor Necrosis Factor Superfamily Member 10): TNFSF10, also known as TRAIL, is a gene that encodes a protein involved in inducing apoptosis, particularly in tumor cells. It plays a role in immune surveillance and has potential applications in cancer therapy by selectively triggering cell death in cancer cells while sparing normal cells. TNFSF10 is actively studied for its therapeutic potential in oncology.

TNFSF10

SOAT2 (Sterol O-Acyltransferase 2): SOAT2 is an enzyme that reflects a key step in lipid metabolism, particularly in the esterification of cholesterol. It plays a critical role in regulating cellular cholesterol levels by converting free cholesterol into cholesterol esters, which are either stored in lipid droplets or transported via lipoproteins. SOAT2 is mainly expressed in tissues involved in lipid metabolism, including the liver, intestine, and macrophages. Its activity is tightly regulated and responsive to cholesterol levels, helping prevent cholesterol toxicity and maintain lipid balance.



SOAT2

TBX3 (T-Box Transcription Factor 3): TBX3 is a transcription factor that plays a critical role in embryonic development, regulating organogenesis including limb, heart, and mammary gland formation. Mutations or dysregulation of TBX3 can cause developmental disorders such as ulnar-mammary syndrome. It is also implicated in cancer, where it may act as a transcriptional repressor to inhibit cell senescence and promote cell proliferation.

TBX3

AKR1E2 (Aldo-Keto Reductase Family 1 Member E2): AKR1E2 is part of the aldo-keto reductase (AKR) family, a group of enzymes involved in the detoxification of aldehydes and ketones. While the specific function of AKR1E2 is not fully understood, members of this family play important roles in metabolism and the cellular response to oxidative stress. Studying AKR1E2 may provide insights into metabolic disorders and how cells respond to environmental stressors.




AKR1E2

rs2129588: Similarly, rs2129588 is a single nucleotide polymorphism (SNP), a common type of genetic variation among individuals. Each SNP represents a change in a single DNA building block, or nucleotide, such as replacing cytosine (C) with thymine (T). Like other SNPs, rs2129588 can act as a biological marker, helping researchers identify genes associated with disease and supporting studies in genomics, pharmacogenomics, and population genetics.

rs2129588

RBM17 (RNA Binding Motif Protein 17): RBM17 is a protein involved in RNA splicing, a key process in gene expression. It plays an important role in regulating alternative splicing, which affects the variety of proteins that can be produced from a single gene. Alterations in RBM17 may have implications in diseases such as cancer, where disrupted splicing can influence cell growth and survival.




RBM17

PTPRT (Protein Tyrosine Phosphatase, Receptor Type T): PTPRT is a gene that encodes a protein belonging to the protein tyrosine phosphatase family, which is important for cell signaling. It plays a role in regulating cellular processes such as cell growth and differentiation. Mutations in PTPRT have been linked to several cancers, particularly colorectal cancer, due to its involvement in signaling pathways that control cell proliferation.

PTPRT

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

LRRN1

MANBA (Mannosidase Beta): MANBA is a gene that encodes a lysosomal enzyme involved in the breakdown of N-linked glycoproteins. It catalyzes the hydrolysis of beta-linked mannose residues, playing a key role in glycoprotein degradation. Deficiencies in MANBA activity can lead to lysosomal storage disorders, resulting in the accumulation of undegraded glycoproteins and impairing cellular function.

CRHR1

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