Protein Name metabolism of cobalamin associated C
Organism Homo sapiens
Gene ID 25974
Gene Symbol

MMACHC

UniProt Q9Y4U1 (MMAC_HUMAN), A0A0C4DGU2 (A0A0C4DGU2_HUMAN)
Relationships Total Number of functionally related compound(s) : 31
Total Number of Articles : 44
Description

metabolism of cobalamin associated C

Gene Summary

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]

synonyms
  • cyanocobalamin reductase / alkylcobalamin dealkylase
  • alkylcobalamin:glutathione S-alkyltransferase
  • cyanocobalamin reductase (cyanide-eliminating)
Click to show/hide the synonyms
Properties