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 Adrenoleukodystrophy. Among its related pathways are fatty acid beta-oxidation (peroxisome) and Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha). 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 (PubMed:17458872, PubMed:17603022). Isoform 1 shows highest activity against medium-chain fatty acyl-CoAs and activity decreases with increasing chain length (PubMed:17603022). Isoform 2 is active against a much broader range of substrates and shows activity towards very long-chain acyl-CoAs (PubMed:17603022). Isoform 2 is twice as active as isoform 1 against 16-hydroxy-palmitoyl-CoA and is 25% more active against 1,16-hexadecanodioyl-CoA (PubMed:17603022).