检测编号：NS0040013

基因 IVD 与疾病

IVD编码异戊酸辅酶A脱氢酶，在亮氨酸代谢的第三阶段发挥重要作用，将异戊酰辅酶A转化为3-甲基巴豆酰辅酶A。已发现25种突变。

基因名称	基因全名	基因位置	外显子个数	CDS长度
IVD	isovaleryl-CoA dehydrogenase	15q14-q15	12	约4665 bp
基因摘要	Isovaleryl-CoA dehydrogenase (IVD) is a mitochondrial matrix enzyme that catalyzes the third step in leucine catabolism. The genetic deficiency of IVD results in an accumulation of isovaleric acid, which is toxic to the central nervous system and leads to isovaleric acidemia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2009].