Aliases for ACOX1 Gene
External Ids for ACOX1 Gene
Previous GeneCards Identifiers for ACOX1 Gene
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]
GeneCards Summary for ACOX1 Gene
ACOX1 (Acyl-CoA Oxidase 1) is a Protein Coding gene. Diseases associated with ACOX1 include Peroxisomal Acyl-Coa Oxidase Deficiency and Mitchell Syndrome. Among its related pathways are Carbon metabolism and Peroxisome. Gene Ontology (GO) annotations related to this gene include signaling receptor binding and protein N-terminus binding. An important paralog of this gene is ACOX2.
UniProtKB/Swiss-Prot Summary for ACOX1 Gene
Catalyzes the desaturation of acyl-CoAs to 2-trans-enoyl-CoAs. First enzyme of the fatty acid beta-oxidation pathway.
[Isoform 1]: Shows highest activity against medium-chain fatty acyl-CoAs and activity decreases with increasing chain length.
[Isoform 2]: Is active against a much broader range of substrates and shows activity towards very long-chain acyl-CoAs. Is twice as active as isoform 1 against 16-hydroxy-palmitoyl-CoA and is 25% more active against 1,16-hexadecanodioyl-CoA.