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 the organic acidemias: an. 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)