MMAA
MMAA (Methylmalonic aciduria (cobalamin deficiency) cblA type) هوَ بروتين يُشَفر بواسطة جين MMAA في الإنسان.[1]
الوظيفة
المراجع
- Dobson CM، Wai T، Leclerc D، Wilson A، Wu X، Doré C، Hudson T، Rosenblatt DS، Gravel RA (نوفمبر 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. ج. 99 ع. 24: 15554–9. DOI:10.1073/pnas.242614799. PMC:137755. PMID:12438653.
قراءة متعمقة
- 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. ج. 281 ع. 26: 17838–44. DOI:10.1074/jbc.M600047200. PMID:16641088.
- Gerhard DS، Wagner L، Feingold EA، وآخرون (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. ج. 14 ع. 10B: 2121–7. DOI:10.1101/gr.2596504. PMC:528928. PMID:15489334.
- Ota T، Suzuki Y، Nishikawa T، وآخرون (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. ج. 36 ع. 1: 40–5. DOI:10.1038/ng1285. PMID:14702039.
- Yang X، Sakamoto O، Matsubara Y، وآخرون (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. ج. 82 ع. 4: 329–33. DOI:10.1016/j.ymgme.2004.05.002. PMID:15308131.
- Merinero B، Pérez B، Pérez-Cerdá C، وآخرون (2008). "Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group". J. Inherit. Metab. Dis. ج. 31 ع. 1: 55–66. DOI:10.1007/s10545-007-0667-y. PMID:17957493.
- Strausberg RL، Feingold EA، Grouse LH، وآخرون (2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. ج. 99 ع. 26: 16899–903. DOI:10.1073/pnas.242603899. PMC:139241. PMID:12477932.
- Hörster F، Baumgartner MR، Viardot C، وآخرون (2007). "Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut-, cblA, cblB)". Pediatr. Res. ج. 62 ع. 2: 225–30. DOI:10.1203/PDR.0b013e3180a0325f. PMID:17597648.
- Honjo RS، Casella EB، Vieira MA، وآخرون (2009). "Spondylocostal dysostosis associated with methylmalonic aciduria". Genet Test Mol Biomarkers. ج. 13 ع. 2: 181–3. DOI:10.1089/gtmb.2008.0069. PMID:19371216.
- بوابة طب
- بوابة علم الأحياء الخلوي والجزيئي
- بوابة الكيمياء الحيوية
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