The exact function of the MMACHC protein 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.
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Protein Aliases: Alkylcobalamin:glutathione S-alkyltransferase; CblC; Cyanocobalamin reductase (cyanide-eliminating); Cyanocobalamin reductase / alkylcobalamin dealkylase; Methylmalonic aciduria and homocystinuria type C protein; MMACHC; RP11-291L19.3
Gene Aliases: cblC; MMACHC
UniProt ID: (Human) Q9Y4U1
Entrez Gene ID: (Human) 25974