MMAA explained
Methylmalonic aciduria type A protein, mitochondrial also known as MMAA is a protein that in humans is encoded by the MMAA gene.[1]
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.[2]
Clinical significance
Mutations in the MMAA gene are associated with methylmalonic acidemia.[1] [3]
External links
Further reading
- Padovani D, Labunska T, Banerjee R . Energetics of interaction between the G-protein chaperone, MeaB, and B12-dependent methylmalonyl-CoA mutase. . J. Biol. Chem. . 281 . 26 . 17838–44 . 2006 . 16641088 . 10.1074/jbc.M600047200 . free .
- Gerhard DS, Wagner L, Feingold EA, etal . The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). . Genome Res. . 14 . 10B . 2121–7 . 2004 . 15489334 . 10.1101/gr.2596504 . 528928 .
- Ota T, Suzuki Y, Nishikawa T, etal . Complete sequencing and characterization of 21,243 full-length human cDNAs. . Nat. Genet. . 36 . 1 . 40–5 . 2004 . 14702039 . 10.1038/ng1285 . free .
- Yang X, Sakamoto O, Matsubara Y, etal . 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 . 2004 . 15308131 . 10.1016/j.ymgme.2004.05.002 .
- Merinero B, Pérez B, Pérez-Cerdá C, etal . 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 . 2008 . 17957493 . 10.1007/s10545-007-0667-y . 10553/49375 . 26112025 . free .
- Strausberg RL, Feingold EA, Grouse LH, etal . Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. . Proc. Natl. Acad. Sci. U.S.A. . 99 . 26 . 16899–903 . 2002 . 12477932 . 10.1073/pnas.242603899 . 139241 . 2002PNAS...9916899M . free .
- Hörster F, Baumgartner MR, Viardot C, etal . Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut-, cblA, cblB). . Pediatr. Res. . 62 . 2 . 225–30 . 2007 . 17597648 . 10.1203/PDR.0b013e3180a0325f . free .
- Honjo RS, Casella EB, Vieira MA, etal . Spondylocostal dysostosis associated with methylmalonic aciduria. . Genet Test Mol Biomarkers . 13 . 2 . 181–3 . 2009 . 19371216 . 10.1089/gtmb.2008.0069 .
Notes and References
- Dobson CM, Wai T, Leclerc D, Wilson A, Wu X, Doré C, Hudson T, Rosenblatt DS, Gravel RA . Identification of the gene responsible for the cblA complementation group of vitamin B12-responsive methylmalonic acidemia based on analysis of prokaryotic gene arrangements . Proc. Natl. Acad. Sci. U.S.A. . 99 . 24 . 15554–9 . November 2002 . 12438653 . 137755 . 10.1073/pnas.242614799 . 2002PNAS...9915554D . free .
- Web site: Entrez Gene: MMAA methylmalonic aciduria (cobalamin deficiency) cblA type .
- Lerner-Ellis JP, Dobson CM, Wai T, Watkins D, Tirone JC, Leclerc D, Doré C, Lepage P, Gravel RA, Rosenblatt DS . Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolism . Hum. Mutat. . 24 . 6 . 509–16 . December 2004 . 15523652 . 10.1002/humu.20104 . 34883155 . free .