ACOX1 Antibody – Mouse Monoclonal

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]

ACOX1: Catalyzes the desaturation of acyl-CoAs to 2-trans- enoyl-CoAs. 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. Isoform 2 is twice as active as isoform 1 against 16-hydroxy- palmitoyl-CoA and is 25% more active against 1,16-hexadecanodioyl- CoA. Defects in ACOX1 are the cause of adrenoleukodystrophy pseudoneonatal (Pseudo-NALD); 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. Belongs to the acyl-CoA oxidase family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: EC 1.3.3.6; Oxidoreductase; Lipid Metabolism - unsaturated fatty acid biosynthesis; Lipid Metabolism - alpha-linolenic acid; Lipid Metabolism - fatty acid

Chromosomal Location of Human Ortholog: 17q25.1

Cellular Component: intracellular membrane-bound organelle; membrane; mitochondrion; nucleolus; nucleoplasm; nucleus; peroxisomal matrix; peroxisomal membrane; peroxisome; plasma membrane

Molecular Function: acyl-CoA binding; acyl-CoA dehydrogenase activity; acyl-CoA oxidase activity; electron carrier activity; FAD binding; palmitoyl-CoA oxidase activity; PDZ domain binding; protein N-terminus binding; receptor binding

Biological Process: cellular lipid metabolic process; fatty acid beta-oxidation using acyl-CoA dehydrogenase; fatty acid beta-oxidation using acyl-CoA oxidase; fatty acid oxidation; generation of precursor metabolites and energy; lipid homeostasis; lipid metabolic process; peroxisome fission; prostaglandin metabolic process; spermatogenesis; unsaturated fatty acid metabolic process; very-long-chain fatty acid metabolic process

Disease: Peroxisomal Acyl-coa Oxidase Deficiency