Protein: ACOX1_HUMAN
Peroxisomal acyl-coenzyme A oxidase 1
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
Links:
Stable Link:
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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...