ACOX1

Chr 17

acyl-CoA oxidase 1

Also known as: ACOX, AOX, MITCH, PALMCOX, SCOX

NCBI Gene: 51 ENSG00000161533 UniProt: Q15067

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.

ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

The protein encoded by this gene is the first enzyme of the fatty acid beta-oxidation pathway, which catalyzes the desaturation of acyl-CoAs to 2-trans-enoyl-CoAs. It donates electrons directly to molecular oxygen, thereby producing hydrogen peroxide. Defects in this gene result in pseudoneonatal adrenoleukodystrophy, a disease that is characterized by accumulation of very long chain fatty acids. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtAdrenoleukodystrophy, pseudoneonatal

UniProtMitchell syndrome

Clinical highlights

Gene-disease validity (ClinGen)

peroxisomal acyl-CoA oxidase deficiency · ARDefinitivesufficient evidence for diagnostic panels2 gene-disease associations curated in total

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

195

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.46

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)