检测编号：NS0060016

基因 HMGCL 与疾病

HMGCL编码3-HMG辅酶A裂合酶，在线粒体中存在，在亮氨酸代谢中发挥作用，也可产生酮类，在单糖缺乏时供能。已经发现25种突变，多数是点突变，例如，沙特阿拉伯族群中最常见的突变是R41Q。也有缺失突变。

基因名称	基因全名	基因位置	外显子个数	CDS长度
HMGCL	3-hydroxymethyl-3-methylglutaryl-CoA lyase	1p36.1-p35	9	约1608 bp
基因摘要	The protein encoded by this gene belongs to the HMG-CoA lyase family. It is a mitochondrial enzyme that catalyzes the final step of leucine degradation and plays a key role in ketone body formation. Mutations in this gene are associated with HMG-CoA lyase deficiency. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009].