Acyl Coenzyme A Oxidase 1, Palmitoyl (ACOX1)

Peroxisomal acyl-coenzyme A oxidase 1 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.The deduced human protein sequence is 89% similar to the rat protein. Like the rat homolog, the human sequence also contains C-terminal ser-lys-leu (SKL) residues which function as a peroxisomal targeting signal. Two mRNA species, 1.9-kb and 2.1-kb, were identified in liver.