ACOX1 est un gène codé par le symbole ACOX1. D'autres noms incluent: Peroxisomal acyl-coenzyme A oxidase 1; AOX; Palmitoyl-CoA oxidase; Straight-chain acyl-CoA oxidase; SCOX; ACOX. ACOX1 a une masse de 74.42kDa, une longueur d'acide aminé de 660, et est impliqué dans Adrenoleukodystrophy, pseudoneonatal.
Nous proposons 1 des anticorps contre ACOX1, élevé dans Lapin, qui sont appropriés pour le WB et IHC avec des échantillons dérivés de Humain et Souris.
Informations sur les Gènes et les Protéines
Résumé UniProt
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).
Résumé Entrez
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.
Spécificité tissulaire
Widely expressed with highest levels of isoform 1 and isoform 2 detected in testis. Isoform 1 is expressed at higher levels than isoform 2 in liver and kidney while isoform 2 levels are higher in brain, lung, muscle, white adipose tissue and testis. Levels are almost equal in heart.
Implication dans la maladie
Adrenoleukodystrophy, pseudoneonatal: 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.
Similitudes de séquence
Belongs to the acyl-CoA oxidase family.
Localisation cellulaire
Peroxisome.
