Mutations in the gene are the cause of vitamin B12-dependent methylmalonic aciduria linked to the cblB complementation group.[7]
Referencesedit
^ abcGRCh38: Ensembl release 89: ENSG00000139428 – Ensembl, May 2017
^ abcGRCm38: Ensembl release 89: ENSMUSG00000029575 – 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.
^Dobson CM, Wai T, Leclerc D, Kadir H, Narang M, Lerner-Ellis JP, et al. (December 2002). "Identification of the gene responsible for the cblB complementation group of vitamin B12-dependent methylmalonic aciduria". Human Molecular Genetics. 11 (26): 3361–3369. doi:10.1093/hmg/11.26.3361. PMID 12471062.
^Leal NA, Park SD, Kima PE, Bobik TA (March 2003). "Identification of the human and bovine ATP:Cob(I)alamin adenosyltransferase cDNAs based on complementation of a bacterial mutant". The Journal of Biological Chemistry. 278 (11): 9227–9234. doi:10.1074/jbc.M212739200. PMID 12514191.
GeneReviews/NCBI/NIH/UW entry on Methylmalonic Acidemia
PDBe-KB provides an overview of all the structure information available in the PDB for Human Corrinoid adenosyltransferase (MMAB)
Further readingedit
Willer CJ, Sanna S, Jackson AU, Scuteri A, Bonnycastle LL, Clarke R, et al. (February 2008). "Newly identified loci that influence lipid concentrations and risk of coronary artery disease". Nature Genetics. 40 (2): 161–169. doi:10.1038/ng.76. PMC5206900. PMID 18193043.
Hörster F, Baumgartner MR, Viardot C, Suormala T, Burgard P, Fowler B, et al. (August 2007). "Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut-, cblA, cblB)". Pediatric Research. 62 (2): 225–230. doi:10.1203/PDR.0b013e3180a0325f. PMID 17597648.
Keeratichamroen S, Cairns JR, Sawangareetrakul P, Liammongkolkul S, Champattanachai V, Srisomsap C, et al. (June 2007). "Novel mutations found in two genes of thai patients with isolated methylmalonic acidemia". Biochemical Genetics. 45 (5–6): 421–430. CiteSeerX10.1.1.509.517. doi:10.1007/s10528-007-9085-y. PMID 17410422. S2CID 20799098.
Kimura K, Wakamatsu A, Suzuki Y, Ota T, Nishikawa T, Yamashita R, et al. (January 2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Research. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC1356129. PMID 16344560.
Martínez MA, Rincón A, Desviat LR, Merinero B, Ugarte M, Pérez B (April 2005). "Genetic analysis of three genes causing isolated methylmalonic acidemia: identification of 21 novel allelic variants". Molecular Genetics and Metabolism. 84 (4): 317–325. doi:10.1016/j.ymgme.2004.11.011. PMID 15781192.
Leal NA, Olteanu H, Banerjee R, Bobik TA (November 2004). "Human ATP:Cob(I)alamin adenosyltransferase and its interaction with methionine synthase reductase". The Journal of Biological Chemistry. 279 (46): 47536–47542. doi:10.1074/jbc.M405449200. PMID 15347655.
Robertson NG, Khetarpal U, Gutiérrez-Espeleta GA, Bieber FR, Morton CC (September 1994). "Isolation of novel and known genes from a human fetal cochlear cDNA library using subtractive hybridization and differential screening". Genomics. 23 (1): 42–50. doi:10.1006/geno.1994.1457. PMID 7829101.
This article on a gene on human chromosome 12 is a stub. You can help Wikipedia by expanding it.
mmab, other, uses, disambiguation, yrinic, acid, diamide, adenosyltransferase, mitochondrial, enzyme, that, humans, encoded, gene, available, structurespdbortholog, search, pdbe, rcsblist, codes2idxidentifiersaliases, cfap23, cblb, methylmalonic, aciduria, cob. For other uses see MMAB disambiguation Cob I yrinic acid a c diamide adenosyltransferase mitochondrial is an enzyme that in humans is encoded by the MMAB gene 5 6 7 MMABAvailable structuresPDBOrtholog search PDBe RCSBList of PDB id codes2IDXIdentifiersAliasesMMAB ATR CFAP23 cblB cob methylmalonic aciduria cobalamin deficiency cblB type metabolism of cobalamin associated BExternal IDsOMIM 607568 MGI 1924947 HomoloGene 12680 GeneCards MMAB OMA MMAB orthologsGene location Human Chr Chromosome 12 human 1 Band12q24 11Start109 553 715 bp 1 End109 573 580 bp 1 Gene location Mouse Chr Chromosome 5 mouse 2 Band5 5 FStart114 569 095 bp 2 End114 582 121 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed inright lobe of liverleft adrenal glandpancreatic ductal cellleft lobe of thyroid glandleft ventricleright lobe of thyroid glandbody of pancreasendothelial cellanterior pituitarykidneyTop expressed ininterventricular septumsacculeascending aortamyocardium of ventricleneural tubeskeletal muscle tissueyolk sacright ventriclebrown adipose tissuetriceps brachii muscleMore reference expression dataBioGPSMore reference expression dataGene ontologyMolecular functiontransferase activity nucleotide binding cob I yrinic acid a c diamide adenosyltransferase activity ATP binding protein binding cobalamin bindingCellular componentmitochondrial matrix mitochondrionBiological processcobalamin metabolic process cobalamin biosynthetic processSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez32662577697EnsemblENSG00000139428ENSMUSG00000029575UniProtQ96EY8Q9D273RefSeq mRNA NM 052845NM 029956NM 001347398RefSeq protein NP 443077NP 001334327NP 084232Location UCSC Chr 12 109 55 109 57 MbChr 5 114 57 114 58 MbPubMed search 3 4 WikidataView Edit HumanView Edit Mouse Contents 1 Function 2 Clinical significance 3 References 4 External links 5 Further readingFunction editThis gene encodes an enzyme cob I yrinic acid a c diamide adenosyltransferase that catalyzes the final step in the conversion of vitamin B12 into adenosylcobalamin AdoCbl a vitamin B12 containing coenzyme for methylmalonyl CoA mutase 7 Clinical significance editMutations in the gene are the cause of vitamin B12 dependent methylmalonic aciduria linked to the cblB complementation group 7 References edit a b c GRCh38 Ensembl release 89 ENSG00000139428 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000029575 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 Dobson CM Wai T Leclerc D Kadir H Narang M Lerner Ellis JP et al December 2002 Identification of the gene responsible for the cblB complementation group of vitamin B12 dependent methylmalonic aciduria Human Molecular Genetics 11 26 3361 3369 doi 10 1093 hmg 11 26 3361 PMID 12471062 Leal NA Park SD Kima PE Bobik TA March 2003 Identification of the human and bovine ATP Cob I alamin adenosyltransferase cDNAs based on complementation of a bacterial mutant The Journal of Biological Chemistry 278 11 9227 9234 doi 10 1074 jbc M212739200 PMID 12514191 a b c Entrez Gene MMAB methylmalonic aciduria cobalamin deficiency cblB type External links editGeneReviews NCBI NIH UW entry on Methylmalonic Acidemia PDBe KB provides an overview of all the structure information available in the PDB for Human Corrinoid adenosyltransferase MMAB Further reading editWiller CJ Sanna S Jackson AU Scuteri A Bonnycastle LL Clarke R et al February 2008 Newly identified loci that influence lipid concentrations and risk of coronary artery disease Nature Genetics 40 2 161 169 doi 10 1038 ng 76 PMC 5206900 PMID 18193043 Horster F Baumgartner MR Viardot C Suormala T Burgard P Fowler B et al August 2007 Long term outcome in methylmalonic acidurias is influenced by the underlying defect mut0 mut cblA cblB Pediatric Research 62 2 225 230 doi 10 1203 PDR 0b013e3180a0325f PMID 17597648 Keeratichamroen S Cairns JR Sawangareetrakul P Liammongkolkul S Champattanachai V Srisomsap C et al June 2007 Novel mutations found in two genes of thai patients with isolated methylmalonic acidemia Biochemical Genetics 45 5 6 421 430 CiteSeerX 10 1 1 509 517 doi 10 1007 s10528 007 9085 y PMID 17410422 S2CID 20799098 Kimura K Wakamatsu A Suzuki Y Ota T Nishikawa T Yamashita R et al January 2006 Diversification of transcriptional modulation large scale identification and characterization of putative alternative promoters of human genes Genome Research 16 1 55 65 doi 10 1101 gr 4039406 PMC 1356129 PMID 16344560 Martinez MA Rincon A Desviat LR Merinero B Ugarte M Perez B April 2005 Genetic analysis of three genes causing isolated methylmalonic acidemia identification of 21 novel allelic variants Molecular Genetics and Metabolism 84 4 317 325 doi 10 1016 j ymgme 2004 11 011 PMID 15781192 Leal NA Olteanu H Banerjee R Bobik TA November 2004 Human ATP Cob I alamin adenosyltransferase and its interaction with methionine synthase reductase The Journal of Biological Chemistry 279 46 47536 47542 doi 10 1074 jbc M405449200 PMID 15347655 Robertson NG Khetarpal U Gutierrez Espeleta GA Bieber FR Morton CC September 1994 Isolation of novel and known genes from a human fetal cochlear cDNA library using subtractive hybridization and differential screening Genomics 23 1 42 50 doi 10 1006 geno 1994 1457 PMID 7829101 nbsp This article on a gene on human chromosome 12 is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title MMAB amp oldid 1142723183, wikipedia, wiki, book, books, library,
