MMACHC, Official Symbol MMACHCprovided by HGNC Official Full Name metabolism of cobalamin associated Cprovided by HGNC Primary source HGNC:HGNC:24525 See related Ensembl:ENSG00000132763 MIM:609831; AllianceGenome:HGNC:24525 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as cblC 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] Expression Ubiquitous expression in thyroid (RPKM 13.1), kidney (RPKM 10.6) and 25 other tissues See more Orthologs mouse all