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.[6]
^ abcGRCh38: Ensembl release 89: ENSG00000151611 – Ensembl, May 2017
^ abcGRCm38: Ensembl release 89: ENSMUSG00000037022 – Ensembl, May 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.
^ abDobson 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. PMC137755. PMID 12438653.
^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.
External linksedit
GeneReviews/NCBI/NIH/UW entry on Methylmalonic Acidemia
Further readingedit
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. PMC528928. 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. hdl:10553/49375. 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. PMC139241. 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.
mmaa, other, uses, disambiguation, methylmalonic, aciduria, type, protein, mitochondrial, also, known, protein, that, humans, encoded, gene, available, structurespdbortholog, search, pdbe, rcsblist, codes2wwwidentifiersaliases, cbla, methylmalonic, aciduria, c. For other uses see MMAA disambiguation Methylmalonic aciduria type A protein mitochondrial also known as MMAA is a protein that in humans is encoded by the MMAA gene 5 MMAAAvailable structuresPDBOrtholog search PDBe RCSBList of PDB id codes2WWWIdentifiersAliasesMMAA cblA methylmalonic aciduria cobalamin deficiency cblA type metabolism of cobalamin associated AExternal IDsOMIM 607481 MGI 1923805 HomoloGene 14586 GeneCards MMAA OMA MMAA orthologsGene location Human Chr Chromosome 4 human 1 Band4q31 21Start145 599 042 bp 1 End145 660 033 bp 1 Gene location Mouse Chr Chromosome 8 mouse 2 Band8 8 C1Start79 990 227 bp 2 End80 021 566 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed insecondary oocytetibialis anterior musclepancreatic ductal celldeltoid muscleright lobe of liverislet of Langerhansendothelial cellrectumbiceps brachiijejunal mucosaTop expressed ininterventricular septumsacculeascending aortaproximal tubuleaortic valvemotor neuronPaneth cellbrown adipose tissuesoleus musclemyocardium of ventricleMore reference expression dataBioGPSn aGene ontologyMolecular functionnucleotide binding hydrolase activity GTPase activity protein binding GTP binding identical protein binding protein homodimerization activityCellular componentmitochondrial matrix mitochondrion intracellular anatomical structureBiological processcobalamin metabolic process cobalamin biosynthetic process short chain fatty acid catabolic process phosphorelay signal transduction system signal transductionSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez166785109136EnsemblENSG00000151611ENSMUSG00000037022UniProtQ8IVH4Q495G5Q8C7H1RefSeq mRNA NM 172250NM 001375644NM 133823NM 001363470NM 001363471NM 001363472RefSeq protein NP 758454NP 598584NP 001350399NP 001350400NP 001350401Location UCSC Chr 4 145 6 145 66 MbChr 8 79 99 80 02 MbPubMed search 3 4 WikidataView Edit HumanView Edit Mouse Contents 1 Function 2 Clinical significance 3 References 4 External links 5 Further readingFunction editThe 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 6 Clinical significance editMutations in the MMAA gene are associated with methylmalonic acidemia 5 7 References edit a b c GRCh38 Ensembl release 89 ENSG00000151611 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000037022 Ensembl May 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 Dore 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 Dore 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 External links editGeneReviews NCBI NIH UW entry on Methylmalonic AcidemiaFurther reading editPadovani 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 Perez B Perez Cerda 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 hdl 10553 49375 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 Horster 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 nbsp This article on a gene on human chromosome 4 is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title MMAA amp oldid 1142700957, wikipedia, wiki, book, books, library,
