Literature associating MMAA and beta-ketothiolase deficiency
Methylmalonic aciduria (cobalamin deficiency) cblA type; GTPase, binds and hydrolyzes GTP. 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.
Synonyms: MMAA, D6RIS5, Q495G5, Q495G6, Q8IVH4 ...