MMAA, Official Symbol MMAAprovided by HGNC Official Full Name metabolism of cobalamin associated Aprovided by HGNC Primary source HGNC:HGNC:18871 See related Ensembl:ENSG00000151611 MIM:607481; AllianceGenome:HGNC:18871 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 cblA Summary The protein encoded by this gene is involved in the translocation of cobalamin into the mitochondrion, where it is used in the final steps of adenosylcobalamin synthesis. Adenosylcobalamin is a coenzyme required for the activity of methylmalonyl-CoA mutase. Defects in this gene are a cause of methylmalonic aciduria. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in liver (RPKM 3.7), kidney (RPKM 2.7) and 25 other tissues See more Orthologs mouse all