Acyl-CoA Oxidase 1, Palmitoyl

Alternative Names

  • ACOX1
  • Acyl-CoA Oxidase, Palmitoyl, Peroxisomal
  • Acyl-CoA Oxidase
  • ACOX
  • Palmitoyl-CoA Oxidase
  • Acyl-CoA Oxidase, Straight-Chain
  • SCOX
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OMIM Number

609751

NCBI Gene ID

51

Uniprot ID

Q15067

Length

37,660 bases

No. of Exons

15

No. of isoforms

3

Protein Name

Peroxisomal acyl-coenzyme A oxidase 1

Molecular Mass

74424 Da

Amino Acid Count

660

Genomic Location

chr17:75,941,507-75,979,166

Gene Map Locus
17q25.1

Description

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]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_004035.7:c.1165A>GUnited Arab EmiratesNC_000017.11:g.75950907T>CNG_008190.1:g.33457A>G; NM_004035.7:c.1165A>G; NP_004026.2:p.Ile389Val
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