GAPDH
Chr 12glyceraldehyde-3-phosphate dehydrogenase
Also known as: G3PD, GAPD, HEL-S-162eP
The protein catalyzes the conversion of glyceraldehyde-3-phosphate to 3-phospho-D-glyceroyl phosphate in glycolysis and serves multiple additional cellular functions including cytoskeletal organization, translation regulation, and innate immune signaling. Mutations in this gene cause autosomal dominant spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type, and severe combined immunodeficiency with hypereosinophilia. The gene shows moderate constraint against loss-of-function variants, suggesting some tolerance for certain types of mutations.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
The highest-scoring mechanism for this gene is gain-of-function.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
95 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 1 | 0 | 42 | 0 | 43 |
Likely Pathogenic | 0 | 0 | 2 | 0 | 2 |
VUS | 0 | 10 | 9 | 0 | 19 |
Likely Benign | 0 | 0 | 0 | 1 | 1 |
Benign | 0 | 0 | 1 | 0 | 1 |
| Total | 1 | 10 | 54 | 1 | 66 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View 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
Immuno-inflammatory Response of Erdosteine in COPD
NOT YET RECRUITINGCushing's Syndrome Before and After Treatment (CORRECT)
RECRUITINGAir Pollution, Asthma and Circadian Clocks
ACTIVE NOT RECRUITINGThe Regulatory Role of miRNA 27 Follistatin Like Protein-1 Gene in Multiple Scelerosis
NOT YET RECRUITINGEvaluation of CCR6 Gene Expression and Circulating CCL20 Levels as Potential Biomarkers in Rheumatoid Arthritis
NOT YET RECRUITINGMolecular Hydrogen Inhalation: Effects on Health, Exercise Capacity and Inflammatory Response - in Vivo/in Vitro Studies
NOT YET RECRUITINGChemotherapy Induced Neuropathy in Cancer Patients
RECRUITINGMolecular Biological and Moleculargenetic Monitoring of Therapy After Kidney Transplantation
RECRUITINGGenes Associated With Bone Metabolism in the Saliva During Orthodontic Treatment
ACTIVE NOT RECRUITINGObserve Change in Nasal Swab DRD2 Gene Expression in Restless Legs Syndrome (RLS) Patients on Prolonged Dopamine Agonist Treatment
RECRUITINGHippotherapy in Children With Spinal Muscular Atrophy
RECRUITINGCHronic Hepatopathies Associated with ALcohol Consumption and MetAbolic Syndrome
RECRUITINGExternal Resources
Links to major genomics databases and tools