人 MMACHC (NM_015506) cDNA克隆

基本信息

Accession: NM_015506
基因名称: MMACHC
基因别名: cblC; RP11-291L19.3
基因描述: Homo sapiens methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria (MMACHC), mRNA.
种属: Human
CDS区长度: 849 (查看编码区序列)
翻译后氨基酸长度: 282 (查看氨基酸序列)

订购信息

产品编号 产品名称 载体 规格 价格
G108306 人 MMACHC (NM_015506) cDNA克隆 pDONR223 2ug质粒 点击询价

载体信息

pDONR223载体图谱

基因简介

The exact function of the protein encoded by this gene is not known, however, its C-terminal region shows similarity to TonB, a bacterial protein involved in energy transduction for cobalamin (vitamin B12) uptake. Hence, it is postulated that this protein may have a role in the binding and intracellular trafficking of cobalamin. Mutations in this gene are associated with methylmalonic aciduria and homocystinuria type cblC. [provided by RefSeq, Oct 2009]

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