메틸말론산뇨 A형 단백질, MMAA 라고도 알려진 미토콘드리아 는 사람에게서 MMAA [5] 유전자 에 의해 암호화되는 단백질 이다.
기능. 이 유전자에 의해 암호화된 단백질은 코발라민 이 미토콘드리아 로 전이되는 데 관여하며, 아데노실코발라민 합성의 마지막 단계에서 사용됩니다. 아데노실코발라민은 메틸말로닐-CoA 뮤타아제 [6]
임상적 의의 MMAA 유전자의 돌연변이는 메틸말론산혈증 과 [5] [7]
레퍼런스 ^ a b c GRCh38: 앙상블 릴리즈 89: ENSG00000151611 - 앙상블 , 2017년 5월^ a b c GRCm38: 앙상블 릴리즈 89: ENSMUSG000037022 - 앙상블 , 2017년 5월^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ a b Dobson CM, Wai T, Leclerc D, Wilson A, Wu X, Doré C, Hudson T, Rosenblatt DS, Gravel RA (November 2002). "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. Bibcode :2002PNAS...9915554D . doi :10.1073/pnas.242614799 PMC 137755 PMID 12438653 . ^ "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 (December 2004). "Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolism". Hum. Mutat . 24 (6): 509–16. doi :10.1002/humu.20104 . PMID 15523652 . S2CID 34883155 . 외부 링크 추가 정보 Padovani D, Labunska T, Banerjee R (2006). "Energetics of interaction between the G-protein chaperone, MeaB, and B12-dependent methylmalonyl-CoA mutase" . J. Biol. Chem . 281 (26): 17838–44. doi :10.1074/jbc.M600047200 PMID 16641088 . Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)" . Genome Res . 14 (10B): 2121–7. doi :10.1101/gr.2596504 . PMC 528928 PMID 15489334 . Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs" . Nat. Genet . 36 (1): 40–5. doi :10.1038/ng1285 PMID 14702039 . 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 . PMID 15308131 . 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 . PMID 17957493 . S2CID 26112025 . Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "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. Bibcode :2002PNAS...9916899M . doi :10.1073/pnas.242603899 PMC 139241 PMID 12477932 . Hörster F, Baumgartner MR, Viardot C, et al. (2007). "Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut-, cblA, cblB)" . Pediatr. Res . 62 (2): 225–30. doi :10.1203/PDR.0b013e3180a0325f PMID 17597648 . Honjo RS, Casella EB, Vieira MA, et al. (2009). "Spondylocostal dysostosis associated with methylmalonic aciduria". Genet Test Mol Biomarkers . 13 (2): 181–3. doi :10.1089/gtmb.2008.0069 . PMID 19371216 . 이 기사에는 미국 국립 의학 도서관 (미국 국립 의학 도서관 )의 공공 도메인 텍스트가 포함되어 있습니다.
