(Acyl-CoA Dehydrogenase, Very Long Chain (ACADVL))
The protein encoded by this gene is targeted to the inner mitochondrial membrane where it catalyzes the first step of the mitochondrial fatty acid beta-oxidation pathway. This acyl-Coenzyme A dehydrogenase is specific to long-chain and very-long-chain fatty acids. A deficiency in this gene product reduces myocardial fatty acid beta-oxidation and is associated with cardiomyopathy. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008].
Nouws, Te Brinke, Nijtmans, Houten: "ACAD9, a complex I assembly factor with a moonlighting function in fatty acid oxidation deficiencies." in: Human molecular genetics, Vol. 23, Issue 5, pp. 1311-9, (2014) (PubMed).
De Pauw, Demine, Tejerina, Dieu, Delaive, Kel, Renard, Raes, Arnould: "Mild mitochondrial uncoupling does not affect mitochondrial biogenesis but downregulates pyruvate carboxylase in adipocytes: role for triglyceride content reduction." in: American journal of physiology. Endocrinology and metabolism, Vol. 302, Issue 9, pp. E1123-41, (2012) (PubMed).
Yoon, Kang, Ryu, Poo: "Identification of tyrosine-nitrated proteins in HT22 hippocampal cells during glutamate-induced oxidative stress." in: Cell proliferation, Vol. 43, Issue 6, pp. 584-93, (2010) (PubMed).
Gobin-Limballe, Djouadi, Aubey, Olpin, Andresen, Yamaguchi, Mandel, Fukao, Ruiter, Wanders, McAndrew, Kim, Bastin: "Genetic basis for correction of very-long-chain acyl-coenzyme A dehydrogenase deficiency by bezafibrate in patient fibroblasts: toward a genotype-based therapy." in: American journal of human genetics, Vol. 81, Issue 6, pp. 1133-43, (2007) (PubMed).
Aliases for ACADVL 抗体
acyl-CoA dehydrogenase very long chain (ACADVL) 抗体 acyl-Coenzyme A dehydrogenase, very long chain (Acadvl) 抗体 acyl-CoA dehydrogenase, very long chain (Acadvl) 抗体 acyl-CoA dehydrogenase very long chain (acadvl) 抗体 acyl-CoA dehydrogenase very long chain (Acadvl) 抗体 ACAD6 抗体 fb52d04 抗体 LCACD 抗体 VLCAD 抗体 vlcad 抗体 wu:fb52d04 抗体 wu:fc75e01 抗体 zgc:64067 抗体