检测编号：NS0030008

基因 MCEE 与疾病

氰钴胺素失调是由于MCEE突变引起的，MCEE基因编码甲基丙二酰辅酶A异构酶，该基因突变导致轻度的甲基丙二酸血症。已经发现3个突变位点。本类型的甲基丙二酸血症比其他类型症状温和，因机体具有不依赖甲基丙二酰辅酶A异构酶合成丁二酰辅酶A的替代途径，但是替代途径不能消耗代谢产物，故仍有代谢产物堆积造成损害。

基因名称	基因全名	基因位置	外显子个数	CDS长度
MCEE	methylmalonyl CoA epimerase	2p13.3	3	约870 bp
基因摘要	The product of this gene catalyzes the interconversion of D- and L-methylmalonyl-CoA during the degradation of branched chain amino acids. odd chain-length fatty acids, and other metabolites. Mutations in this gene result in methylmalonyl-CoA epimerase deficiency, which is presented as mild to moderate methylmalonic aciduria. [provided by RefSeq, Jul 2008].