MMAA
For other uses, see MMAA (disambiguation).
| Methylmalonic aciduria (cobalamin deficiency) cblA type | |||||||||||||
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| Identifiers | |||||||||||||
| Symbols | MMAA ; cblA | ||||||||||||
| External IDs | OMIM: 607481 MGI: 1923805 HomoloGene: 14586 GeneCards: MMAA Gene | ||||||||||||
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| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 166785 | 109136 | |||||||||||
| Ensembl | ENSG00000151611 | ENSMUSG00000037022 | |||||||||||
| UniProt | Q8IVH4 | Q8C7H1 | |||||||||||
| RefSeq (mRNA) | NM_172250 | NM_133823 | |||||||||||
| RefSeq (protein) | NP_758454 | NP_598584 | |||||||||||
| Location (UCSC) | Chr 4: 146.54 – 146.58 Mb | Chr 8: 79.27 – 79.29 Mb | |||||||||||
| PubMed search | |||||||||||||
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]
References
- ↑ 1.0 1.1 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. 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.
External links
Further reading
- 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.
- 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. 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.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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