Aliases for MMAA Gene
External Ids for MMAA Gene
Previous GeneCards Identifiers for MMAA Gene
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]
GeneCards Summary for MMAA Gene
MMAA (Methylmalonic Aciduria (Cobalamin Deficiency) CblA Type) is a Protein Coding gene. Diseases associated with MMAA include Methylmalonic Aciduria, Cbla Type and Methylmalonic Aciduria, Cblb Type. Among its related pathways are Mitochondrial Fatty Acid Beta-Oxidation and Metabolism. Gene Ontology (GO) annotations related to this gene include GTP binding and hydrolase activity.
UniProtKB/Swiss-Prot for MMAA Gene
GTPase, binds and hydrolyzes GTP (PubMed:28497574, PubMed:20876572). Involved in intracellular vitamin B12 metabolism, mediates the transport of cobalamin (Cbl) into mitochondria for the final steps of adenosylcobalamin (AdoCbl) synthesis. Functions as a G-protein chaperone that assists AdoCbl cofactor delivery from MMAB to the methylmalonyl-CoA mutase (MUT) and reactivation of the enzyme during catalysis (PubMed:28497574, PubMed:20876572).