Aliases for MMACHC Gene
External Ids for MMACHC Gene
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]
GeneCards Summary for MMACHC Gene
MMACHC (Methylmalonic Aciduria (Cobalamin Deficiency) CblC Type, With Homocystinuria) is a Protein Coding gene. Diseases associated with MMACHC include methylmalonic aciduria and homocystinuria, cblc type and methylmalonic acidemia with homocystinuria. Among its related pathways are Disease and Metabolism. GO annotations related to this gene include cobalamin binding.
UniProtKB/Swiss-Prot for MMACHC Gene
May be involved in the binding and intracellular trafficking of cobalamin (vitamin B12)