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Protein: ACOX1_HUMAN

Peroxisomal acyl-coenzyme A oxidase 1

FUNCTION: Catalyzes the desaturation of very long chain acyl-CoAs to 2-trans-enoyl-CoAs. CATALYTIC ACTIVITY: Acyl-CoA + O(2) = trans-2,3-dehydroacyl-CoA + H(2)O(2). COFACTOR: FAD. more...

PATHWAY: Lipid metabolism; peroxisomal fatty acid beta-oxidation.

SUBCELLULAR LOCATION: Peroxisome.

ALTERNATIVE PRODUCTS: Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q15067-1; Sequence=Displayed; Name=2; IsoId=Q15067-2; Sequence=VSP_000146;

DISEASE: Defects in ACOX1 are the cause of adrenoleukodystrophy pseudoneonatal (Pseudo-NALD) [MIM:264470]; also known as peroxisomal acyl-CoA oxidase deficiency. Pseudo-NALD is a peroxisomal single-enzyme disorder. Clinical features include mental retardation, leukodystrophy, seizures, mild hepatomegaly, hearing deficit. Pseudo-NALD is characterized by increased plasma levels of very-long chain fatty cids, due to decreased or absent peroxisome acyl-CoA oxidase activity. Peroxisomes are intact and functioning.

SIMILARITY: Belongs to the acyl-CoA oxidase family.

SEQUENCE CAUTION: Sequence=CAD97622.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ACOX1";

GENE SYNONYMS: ACOX.

COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.

 

Organism:

  • Homo sapiens

Gene Symbol:

  • ACOX1

Synonyms:

  • AOX
  • Straight-chain acyl-CoA oxidase
  • SCOX
  • Palmitoyl-CoA oxidase
  • 1.3.3.6

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