Protein Name | metabolism of cobalamin associated C |
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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 |
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Properties | |