Methylmalonic acidemia (cobalamin disorders)(甲基丙二酸血症(氰钴胺素失调)) |
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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]. |