ACOX1
Chr 17ADARacyl-CoA oxidase 1
Also known as: ACOX, AOX, MITCH, PALMCOX, SCOX
The protein catalyzes the first step of peroxisomal fatty acid beta-oxidation, converting acyl-CoAs to 2-trans-enoyl-CoAs while producing hydrogen peroxide. Mutations cause peroxisomal acyl-CoA oxidase deficiency and Mitchell syndrome through both autosomal recessive loss-of-function and autosomal dominant gain-of-function mechanisms, leading to accumulation of very long chain fatty acids. The phenotype resembles pseudoneonatal adrenoleukodystrophy with neurological deterioration and white matter abnormalities.
Definitive — sufficient evidence for diagnostic panels
2 total gene-disease associations curated
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
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.
Literature Evidence
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ACOX1 · 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