人 MMAB (NM_052845) cDNA克隆

Accession: NM_052845
基因名称: MMAB
基因别名: ATR; cob; cblB
基因描述: Homo sapiens methylmalonic aciduria (cobalamin deficiency) cblB type (MMAB), transcript variant 1, mRNA.
种属: Human
CDS区长度: 753 (查看编码区序列)
翻译后氨基酸长度: 250 (查看氨基酸序列)
Transcript Variant: This variant (1) encodes a functional protein.
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G108611 人 MMAB (NM_052845) cDNA克隆 pDONR223 2ug质粒 点击询价

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]