检测编号：NS0020005

基因 MMAB 与疾病

MMAB基因编码的产物是腺苷钴胺素（AdoCbl)形成过程中的关键酶，在线粒体中发挥作用，是维生素B12(钴胺素）的前体。已发现至少25种MMAB突变，包括插入、缺失和点突变。

基因名称	基因全名	基因位置	外显子个数	CDS长度
MMAB	methylmalonic aciduria (cobalamin deficiency) cblB type	12q24	10	约4225 bp
基因摘要	This gene encodes a protein that catalyzes the final step in the conversion of vitamin B(12) into adenosylcobalamin (AdoCbl), a vitamin B12-containing coenzyme for methylmalonyl-CoA mutase. Mutations in the gene are the cause of vitamin B12-dependent methylmalonic aciduria linked to the cblB complementation group. Alternatively spliced transcript variants have been found. [provided by RefSeq, Apr 2011].