Gene:
methylmalonic aciduria (cobalamin deficiency) type B
Gene ID:
194065
Symbol:
MMAB
Species:
1000
Description:
The MMAB gene encodes cob(I)alamin adenosyltransferase (EC 2.5.1.17), which catalyzes the final step in the synthesis of the coenzyme adenosylcobalamin (AdoCbl). AdoCbl is a vitamin B12-containing coenzyme for methylmalonyl-CoA mutase (MIM 609058).[supplied by OMIM]