人 MMAA (NM_172250) cDNA克隆

Accession: NM_172250
基因名称: MMAA
基因别名: cblA
基因描述: Homo sapiens methylmalonic aciduria (cobalamin deficiency) cblA type (MMAA), mRNA.
种属: Human
CDS区长度: 1257 (查看编码区序列)
翻译后氨基酸长度: 418 (查看氨基酸序列)
产品编号 产品名称 载体 规格 价格
G123545 人 MMAA (NM_172250) cDNA克隆 pDONR223 2ug质粒 点击询价

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]