检测编号：NS0120022

基因 ACADVL 与疾病

脂肪酸的β氧化是心脏、肝脏、骨骼肌等脏器组织能量供应的主要来源。ACADVL基因编码VLCAD（极长链酰基辅酶A脱氢酶），其活性缺陷时可引起线粒体长链脂肪酸氧化障碍，导致机体脏器能量供应障碍而引发各种各样的症状。已发现100多种ACADVL突变，大多数是点突变，也有大片段碱基缺失和无义突变。

基因名称	基因全名	基因位置	外显子个数	CDS长度
ACADVL	acyl-CoA dehydrogenase, very long chain	17p13.1	20	约2292 bp
基因摘要	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].