MMACHC( Human )

Entrez Gene 25974 Entrez Gene 25974
methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria

Alias

cblC

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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