检测编号：NS0090019

基因 GCDH 与疾病

GCDH基因编码戊二酰辅酶A脱氢酶，该基因突变导致戊二酰辅酶A生成障碍，体内羟赖氨酸、色氨酸和赖氨酸代谢过程受阻，代谢产物堆积影响神经系统。已经发现150多种突变，大多数是点突变。主要有A421V，E414K。

基因名称	基因全名	基因位置	外显子个数	CDS长度
GCDH	glutaryl-CoA dehydrogenase	19p13.2	12	约2156 bp
基因摘要	The protein encoded by this gene belongs to the acyl-CoA dehydrogenase family. It catalyzes the oxidative decarboxylation of glutaryl-CoA to crotonyl-CoA and CO(2) in the degradative pathway of L-lysine, L-hydroxylysine, and L-tryptophan metabolism. It uses electron transfer flavoprotein as its electron acceptor. The enzyme exists in the mitochondrial matrix as a homotetramer of 45-kD subunits. Mutations in this gene result in the metabolic disorder glutaric aciduria type 1, which is also known as glutaric acidemia type I. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 12. [provided by RefSeq, Mar 2013].