ACADVL
Chr 17ARacyl-CoA dehydrogenase very long chain
The protein catalyzes the first step of mitochondrial fatty acid beta-oxidation, specifically dehydrogenating very long-chain fatty acyl-CoAs (12-24 carbons) to produce energy from fats. Autosomal recessive mutations cause VLCAD deficiency, which presents with cardiomyopathy due to reduced myocardial fatty acid beta-oxidation. The pathogenic mechanism involves loss of function mutations that impair the enzyme's ability to break down long-chain fatty acids.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
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
ACADVL · 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