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]
Function [ ]
This 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 [ ]
Mutations in the gene are the cause of vitamin B12 -dependent methylmalonic aciduria linked to the cblB complementation group.[7]
References [ ]
^ 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, Hudson TJ, Rosenblatt DS, Gravel RA (Dec 2002). "Identification of the gene responsible for the cblB complementation group of vitamin B12 -dependent methylmalonic aciduria" . Hum Mol Genet . 11 (26): 3361–9. doi :10.1093/hmg/11.26.3361 . PMID 12471062 .
^ Leal NA, Park SD, Kima PE, Bobik TA (Mar 2003). "Identification of the human and bovine ATP:Cob(I)alamin adenosyltransferase cDNAs based on complementation of a bacterial mutant" . J Biol Chem . 278 (11): 9227–34. doi :10.1074/jbc.M212739200 . PMID 12514191 .
^ a b c "Entrez Gene: MMAB methylmalonic aciduria (cobalamin deficiency) cblB type" .
External links [ ]
Further reading [ ]
Willer CJ, Sanna S, Jackson AU, et al. (2008). "Newly identified loci that influence lipid concentrations and risk of coronary artery disease" . Nat. Genet . 40 (2): 161–9. doi :10.1038/ng.76 . PMC 5206900 . PMID 18193043 .
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 .
Keeratichamroen S, Cairns JR, Sawangareetrakul P, et al. (2007). "Novel mutations found in two genes of thai patients with isolated methylmalonic acidemia". Biochem. Genet . 45 (5–6): 421–30. CiteSeerX 10.1.1.509.517 . doi :10.1007/s10528-007-9085-y . PMID 17410422 . S2CID 20799098 .
Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes" . Genome Res . 16 (1): 55–65. doi :10.1101/gr.4039406 . PMC 1356129 . PMID 16344560 .
Martínez MA, Rincón A, Desviat LR, et al. (2005). "Genetic analysis of three genes causing isolated methylmalonic acidemia: identification of 21 novel allelic variants". Mol. Genet. Metab . 84 (4): 317–25. doi :10.1016/j.ymgme.2004.11.011 . PMID 15781192 .
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 .
Leal NA, Olteanu H, Banerjee R, Bobik TA (2005). "Human ATP:Cob(I)alamin adenosyltransferase and its interaction with methionine synthase reductase" . J. Biol. Chem . 279 (46): 47536–42. doi :10.1074/jbc.M405449200 . PMID 15347655 .
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "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 .
Robertson NG, Khetarpal U, Gutiérrez-Espeleta GA, et al. (1995). "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 .
PDB gallery
2idx : Structure of Human ATP:Cobalamin adenosyltransferase bound to ATP.
Fat soluble vitamins
Water soluble vitamins
Nonvitamin cofactors