Disease-gene associations mined from literature

Literature associating MMAA and beta-ketothiolase deficiency

MMAA [ENSP00000281317]

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 ...

Linkouts:  STRING  Pharos  UniProt  OMIM