ACOX1

ACOX1 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

Acyl-CoA Oxidase 1

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.

Alpha-linolenic acid metabolic process
Cholesterol homeostasis
Fatty acid beta-oxidation using acyl-CoA oxidase
Fatty acid catabolic process
Fatty acid oxidation
Generation of precursor metabolites and energy
Hydrogen peroxide biosynthetic process
Lipid homeostasis
Lipid metabolic process
Peroxisome fission
Prostaglandin metabolic process
Protein localization
Regulation of metabolic process
Spermatogenesis
Very long-chain fatty acid beta-oxidation
Very long-chain fatty acid metabolic process

Peroxisome

Adrenoleukodystrophy, pseudoneonatal (Pseudo-NALD): A peroxisomal single-enzyme disorder of fatty acid beta-oxidation, resulting in clinical manifestations that remind neonatal adrenoleukodystrophy. Clinical features include mental retardation, leukodystrophy, seizures, mild hepatomegaly, hearing deficit. Pseudo-NALD is characterized by increased plasma levels of very-long chain fatty acids, due to decreased or absent peroxisome acyl-CoA oxidase activity. Peroxisomes are intact and functioning.
Mitchell syndrome (MITCH): A disorder characterized by episodic demyelination, sensorimotor polyneuropathy, and sensorineural hearing loss.