MMAB, Official Symbol MMABprovided by HGNC Official Full Name metabolism of cobalamin associated Bprovided by HGNC Primary source HGNC:HGNC:19331 See related Ensembl:ENSG00000139428 MIM:607568; AllianceGenome:HGNC:19331 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 ATR; cob; cblB; CFAP23 Summary This gene encodes a protein that catalyzes the final step in the conversion of vitamin B(12) into adenosylcobalamin (AdoCbl), a vitamin B12-containing coenzyme for methylmalonyl-CoA mutase. Mutations in the gene are the cause of vitamin B12-dependent methylmalonic aciduria linked to the cblB complementation group. Alternatively spliced transcript variants have been found. [provided by RefSeq, Apr 2011] Expression Ubiquitous expression in liver (RPKM 6.8), adrenal (RPKM 5.6) and 25 other tissues See more Orthologs mouse all