检测编号：NS0360108

基因 AUH 与疾病

AUH编码3-甲基戊烯二酰辅酶A水合酶，在线粒体中代谢亮氨酸，为机体供能。该基因突变导致3-甲基戊烯二酰辅酶A水合酶缺失，亮氨酸代谢异常，多种有害代谢产物堆积，影响神经系统的发育

基因名称	基因全名	基因位置	外显子个数	CDS长度
AUH	AU RNA binding protein/enoyl-CoA hydratase	9q22.31	10	约1588 bp
基因摘要	This gene encodes bifunctional mitochondrial protein that has both RNA-binding and hydratase activities. The encoded protein is a methylglutaconyl-CoA hydratase that catalyzes the hydration of 3-methylglutaconyl-CoA to 3-hydroxy-3-methyl-glutaryl-CoA, a critical step in the leucine degradation pathway. This protein also binds AU-rich elements (AREs) found in the 3' UTRs of rapidly decaying mRNAs including c-fos, c-myc and granulocyte/ macrophage colony stimulating factor. ARE elements are involved in directing RNA to rapid degradation and deadenylation. This protein is localizes to the mitochondrial matrix and the inner mitochondrial membrane and may be involved in mitochondrial protein synthesis. Mutations in this gene are the cause of 3-methylglutaconic aciduria, type I. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015].