GCDH
Chr 19ARglutaryl-CoA dehydrogenase
The encoded protein catalyzes the oxidative decarboxylation of glutaryl-CoA to crotonyl-CoA in the mitochondrial matrix, functioning in the degradative pathway of L-lysine, L-hydroxylysine, and L-tryptophan metabolism. Mutations cause glutaric aciduria type I, an autosomal recessive metabolic disorder. The pathogenic mechanism involves dominant-negative effects of mutant protein on wild-type enzyme function.
Definitive — sufficient evidence for diagnostic panels
Some data sources returned errors (1)
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Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
GCDH · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
External Resources
Links to major genomics databases and tools