ACOX1 ist ein Gen, das durch das Symbol ACOX1 kodiert wird. Andere Namen sind: Peroxisomal acyl-coenzyme A oxidase 1; AOX; Palmitoyl-CoA oxidase; Straight-chain acyl-CoA oxidase; SCOX; ACOX. ACOX1 hat eine Masse von 74.42kDa, eine Aminosäurelänge von 660, und ist an Adrenoleukodystrophy, pseudoneonatal beteiligt.
Wir bieten 1 antikörper gegen ACOX1, aufgewachsen in Kaninchen, welche geeignet sind für WB and IHC mit Proben abgeleitet von Human und Maus.
Gen- und Proteininformationen
UniProt Zusammenfassung
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).
Entrez Zusammenfassung
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.
Gewebespezifität
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.
Rolle bei Krankheiten
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.
Sequenzähnlichkeiten
Belongs to the acyl-CoA oxidase family.
