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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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
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
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