ACOX1 Antibody – Rabbit Polyclonal

This gene encodes a member of the acyl-coenzyme A oxidase family. The encoded protein is localized to peroxisomes and is the first enzyme of the fatty acid beta-oxidation pathway, which catalyzes the desaturation of acyl-coenzyme A to 2-trans-enoyl-coenzyme A. Disruption of this gene results in microvesicular steatohepatitis, spontaneous peroxisome proliferation, and the eventual development of hepatocellular carcinomas. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]

ACOX1 iso3: 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; Lipid Metabolism - alpha-linolenic acid; Lipid Metabolism - fatty acid; Lipid Metabolism - unsaturated fatty acid biosynthesis; Oxidoreductase

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

Molecular Function: palmitoyl-CoA oxidase activity; acyl-CoA dehydrogenase activity; acyl-CoA oxidase activity; FAD binding; oxidoreductase activity, acting on the CH-CH group of donors; protein N-terminus binding; oxidoreductase activity; fatty acid binding; PDZ domain binding; receptor binding

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