{"symbol":"MMACHC","synonyms":["cblC"],"name":"methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria","description":"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]","ncbiEntrezGeneId":25974,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/25974","proteins":[{"symbol":"MMAC_HUMAN","href":"/api/1.0/protein/MMAC_HUMAN"}],"hgncRootFamilies":[]}