GAPDH
Chr 12glyceraldehyde-3-phosphate dehydrogenase
Also known as: G3PD, GAPD, HEL-S-162eP
This gene encodes a member of the glyceraldehyde-3-phosphate dehydrogenase protein family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. The product of this gene catalyzes an important energy-yielding step in carbohydrate metabolism, the reversible oxidative phosphorylation of glyceraldehyde-3-phosphate in the presence of inorganic phosphate and nicotinamide adenine dinucleotide (NAD). The encoded protein has additionally been identified to have uracil DNA glycosylase activity in the nucleus. Also, this protein contains a peptide that has antimicrobial activity against E. coli, P. aeruginosa, and C. albicans. Studies of a similar protein in mouse have assigned a variety of additional functions including nitrosylation of nuclear proteins, the regulation of mRNA stability, and acting as a transferrin receptor on the cell surface of macrophage. Many pseudogenes similar to this locus are present in the human genome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]
Clinical highlights
Some data sources returned errors (1)
omim: Error: OMIM fetch failed: 429
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
GAPDH · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
A Randomized, Double-Blind, Placebo Controlled Study to Assess the Efficacy and Safety of SNP-610 for the Treatment of Patients With Non-alcoholic Steatohepatitis
NOT YET RECRUITINGCHronic Hepatopathies Associated With ALcohol Consumption aNd metAbolic Syndrome
RECRUITINGAir Pollution, Asthma and Circadian Clocks
ACTIVE NOT RECRUITINGMolecular Biological and Moleculargenetic Monitoring of Therapy After Kidney Transplantation
RECRUITINGMolecular Hydrogen Inhalation: Effects on Health, Exercise Capacity and Inflammatory Response - in Vivo/in Vitro Studies
NOT YET RECRUITINGObserve Change in Nasal Swab DRD2 Gene Expression in Restless Legs Syndrome (RLS) Patients on Prolonged Dopamine Agonist Treatment
RECRUITINGMitophagy and Mitochondrial DNA Dynamics During Ramadan Dry Fasting vs 16:8 Time-Restricted Feeding
NOT YET RECRUITINGCushing's Syndrome Before and After Treatment (CORRECT)
RECRUITINGImmuno-inflammatory Response of Erdosteine in COPD
NOT YET RECRUITINGEvaluation of CCR6 Gene Expression and Circulating CCL20 Levels as Potential Biomarkers in Rheumatoid Arthritis
NOT YET RECRUITINGGenes Associated With Bone Metabolism in the Saliva During Orthodontic Treatment
ACTIVE NOT RECRUITINGExamining the Impact of Phytoestrogens Supplementation on the Gene Expression, and Premenstrual Syndrome in Primenopausal Women
ENROLLING BY INVITATIONExternal Resources
Links to major genomics databases and tools