Methylmalonic acidemia (methylmalonyl-CoA mutase)(甲基丙二酸血症(甲基丙二酰辅酶A变位酶突变))

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检测编号:NS0020007


基因 MUT 与疾病

已经发现200多种MUT突变,约60%的甲基丙二酸血症是由于MUT基因突变引起。MUT基因编码甲基丙二酰辅酶A变位酶,与维生素B12(也称氰钴胺素)共同作用,打破某些蛋白质结构、脂肪和胆固醇,一些突变导致功能丧失或数量锐减,导致临床mut0症状病症严重且预后差;其他一些突变改变甲基丙二酰辅酶A变位酶结构,但不消除其活性,临床表现为mut-,症状稍轻。此亚型显著特征是血清钴胺素浓度不变。

基因名称基因全名基因位置外显子个数 CDS长度
MUT methylmalonyl CoA mutase 6p12.3 13 约3886 bp
基因摘要 This gene encodes the mitochondrial enzyme methylmalonyl Coenzyme A mutase. In humans, the product of this gene is a vitamin B12-dependent enzyme which catalyzes the isomerization of methylmalonyl-CoA to succinyl-CoA, while in other species this enzyme may have different functions. Mutations in this gene may lead to various types of methylmalonic aciduria. [provided by RefSeq, Jul 2008].