MMAA
Mitohondrijski protein metilmalonske acidurije tipa A, znan i kao MMAA, jest protein koji je kod ljudi kodiran genom MMAA sa hromosoma 4.[5]
Aminokiselinska sekvenca
Dužina polipeptidnog lanca je 418 aminokiselina, а molekulska težina 46.538 Da.[6]
| 10 | 20 | 30 | 40 | 50 | ||||
|---|---|---|---|---|---|---|---|---|
| MPMLLPHPHQ | HFLKGLLRAP | FRCYHFIFHS | STHLGSGIPC | AQPFNSLGLH | ||||
| CTKWMLLSDG | LKRKLCVQTT | LKDHTEGLSD | KEQRFVDKLY | TGLIQGQRAC | ||||
| LAEAITLVES | THSRKKELAQ | VLLQKVLLYH | REQEQSNKGK | PLAFRVGLSG | ||||
| PPGAGKSTFI | EYFGKMLTER | GHKLSVLAVD | PSSCTSGGSL | LGDKTRMTEL | ||||
| SRDMNAYIRP | SPTRGTLGGV | TRTTNEAILL | CEGAGYDIIL | IETVGVGQSE | ||||
| FAVADMVDMF | VLLLPPAGGD | ELQGIKRGII | EMADLVAVTK | SDGDLIVPAR | ||||
| RIQAEYVSAL | KLLRKRSQVW | KPKVIRISAR | SGEGISEMWD | KMKDFQDLML | ||||
| ASGELTAKRR | KQQKVWMWNL | IQESVLEHFR | THPTVREQIP | LLEQKVLIGA | ||||
| LSPGLAADFL | LKAFKSRD |
Funkcija
Protein koji je kodiran ovim genom uključen je u translokaciju kobalamina u mitohondrije, gdje se koristi u završnim koracima sinteze adenozilkobalamina. Adenozilkobalamin je koenzim potreban za aktivnost metilmalonil-CoA mutaza.[7]
Klinički značaj
Mutacije u genu MMAA povezane su sa metilmalonskom acidemijom.[5][8]
Reference
- ^ a b c GRCh38: Ensembl release 89: ENSG00000151611 - Ensembl, maj 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000037022 - Ensembl, maj 2017
- ^ "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 (novembar 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.
- ^ "UniProt, Q8IVH4" (jezik: engleski). Pristupljeno 30. 10. 2017.
- ^ "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 (decembar 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.
Vanjski linkovi
Dopunska literatura
- 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.
Vanjski linkovi
Ovaj članak uključuje tekst iz Nacionalne medicinske biblioteke Sjedinjenih Država, koji je u javnom vlasništvu.
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