Methylmalonic aciduria type A protein, mitochondrial also known as MMAA is a protein that in humans is encoded by the MMAAgene.[5]
Function
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.[6]
Yang X, Sakamoto O, Matsubara Y, et al. (2004). "Mutation analysis of the MMAA and MMAB genes in Japanese patients with vitamin B(12)-responsive methylmalonic acidemia: identification of a prevalent MMAA mutation". Mol. Genet. Metab. 82 (4): 329–33. doi:10.1016/j.ymgme.2004.05.002. PMID15308131.
Merinero B, Pérez B, Pérez-Cerdá C, et al. (2008). "Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group". J. Inherit. Metab. Dis. 31 (1): 55–66. doi:10.1007/s10545-007-0667-y. hdl:10553/49375. PMID17957493. S2CID26112025.
