Gene:
methylmalonic aciduria (cobalamin deficiency) type A
Gene ID:
206208
Symbol:
MMAA
Species:
1000
Description:
Adenosylcobalamin (AdoCbl) is a cobalamin (cbl; vitamin B12)-containing coenzyme necessary for methylmalonyl-CoA mutase (MUT; MIM 609058) activity. The MMAA protein is involved in the translocation of cbl into mitochondria for the final steps of AdoCbl synthesis (Dobson et al., 2002).[supplied by OMIM]