检测编号：NS0020004

基因 MMAA 与疾病

MMAA基因编码的产物MMAA蛋白是甲基丙二酰辅酶A变位酶发挥作用过程中的必须物质，已发现25种MMAA基因突变，包括插入、缺失和点突变，这些基因突变导致甲基丙酰辅酶A发挥作用受阻。

基因名称	基因全名	基因位置	外显子个数	CDS长度
MMAA	methylmalonic aciduria (cobalamin deficiency) cblA type	4q31.21	7	约5943 bp
基因摘要	The protein encoded by this gene is involved in the translocation of cobalamin into the mitochondrion, where it is used in the final steps of adenosylcobalamin synthesis. Adenosylcobalamin is a coenzyme required for the activity of methylmalonyl-CoA mutase. Defects in this gene are a cause of methylmalonic aciduria. [provided by RefSeq, Jul 2008].