检测编号：NS0130023

基因 HADHA 与疾病

HADHA编码长链羟酰基辅酶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。

基因名称	基因全名	基因位置	外显子个数	CDS长度
HADHA	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	2p23	20	约3037 bp
基因摘要	This gene encodes the alpha subunit of the mitochondrial trifunctional protein, which catalyzes the last three steps of mitochondrial beta-oxidation of long chain fatty acids. The mitochondrial membrane-bound heterocomplex is composed of four alpha and four beta subunits, with the alpha subunit catalyzing the 3-hydroxyacyl-CoA dehydrogenase and enoyl-CoA hydratase activities. Mutations in this gene result in trifunctional protein deficiency or LCHAD deficiency. The genes of the alpha and beta subunits of the mitochondrial trifunctional protein are located adjacent to each other in the human genome in a head-to-head orientation. [provided by RefSeq, Jul 2008].