Aliases for MMAA Gene
External Ids 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 mmaa-related methylmalonic acidemia and methylmalonic aciduria, vitamin b12-responsive. Among its related pathways are Disease and Metabolism. GO annotations related to this gene include GTP binding and nucleoside-triphosphatase activity.
UniProtKB/Swiss-Prot for MMAA Gene
Probable GTPase. May function as chaperone. May be involved in the transport of cobalamin (Cbl) into mitochondria for the final steps of adenosylcobalamin (AdoCbl) synthesis