ACOX1 è un gene codificato dal simbolo ACOX1. Altri nomi includono: Peroxisomal acyl-coenzyme A oxidase 1; AOX; Palmitoyl-CoA oxidase; Straight-chain acyl-CoA oxidase; SCOX; ACOX. ACOX1 ha una massa di 74.42kDa, una lunghezza di amminoacidi di 660, ed è implicato in Adrenoleukodystrophy, pseudoneonatal.
Offriamo 1 anticorpi contro ACOX1, allevati nel Coniglio, che sono adatti per WB e IHC con campioni derivati da Umano e Topo.
Informazioni su geni e proteine
Riepilogo 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).
Sommario di 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.
Specificità del tessuto
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.
Coinvolgimento nella malattia
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.
Somiglianze di sequenza
Belongs to the acyl-CoA oxidase family.
Posizione cellulare
Peroxisome.
