检测编号：NS0110021

基因 ACADM 与疾病

在线粒体中，ACADM基因编码MCAD（中链酰基辅酶A脱氢酶），参与脂肪酸氧化过程，是心脏、肝脏、骨骼肌等脏器组织能量供应的主要来源。已发现80多种突变，大多数是点突变，突变频率最高的是K304E。MCAD活性缺陷可引起线粒体中链脂肪酸氧化障碍，导致机体脏器能量供应障碍而引发各种各样的症状。

基因名称	基因全名	基因位置	外显子个数	CDS长度
ACADM	acyl-CoA dehydrogenase, C-4 to C-12 straight chain	1p31	12	约2622 bp
基因摘要	This gene encodes the medium-chain specific (C4 to C12 straight chain) acyl-Coenzyme A dehydrogenase. The homotetramer enzyme catalyzes the initial step of the mitochondrial fatty acid beta-oxidation pathway. Defects in this gene cause medium-chain acyl-CoA dehydrogenase deficiency, a disease characterized by hepatic dysfunction, fasting hypoglycemia, and encephalopathy, which can result in infantile death. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].