MMAB

MMAB

Methylmalonic aciduria (cobalamin deficiency) cblB type, also known as MMAB, is a human gene.cite web | title = Entrez Gene: MMAB methylmalonic aciduria (cobalamin deficiency) cblB type| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=326625| accessdate = ]

PBB_Summary
section_title =
summary_text = This gene encodes a protein that catalyzes the final step in the conversion of vitamin B(12) into adenosylcobalamin (AdoCbl), a vitamin B12-containing coenzyme for methylmalonyl-CoA mutase. Mutations in the gene are the cause of vitamin B12-dependent methylmalonic aciduria linked to the cblB complementation group.cite web | title = Entrez Gene: MMAB methylmalonic aciduria (cobalamin deficiency) cblB type| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=326625| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Willer CJ, Sanna S, Jackson AU, "et al." |title=Newly identified loci that influence lipid concentrations and risk of coronary artery disease. |journal=Nat. Genet. |volume=40 |issue= 2 |pages= 161–9 |year= 2008 |pmid= 18193043 |doi= 10.1038/ng.76
*cite journal | author=Hörster F, Baumgartner MR, Viardot C, "et al." |title=Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut-, cblA, cblB). |journal=Pediatr. Res. |volume=62 |issue= 2 |pages= 225–30 |year= 2007 |pmid= 17597648 |doi= 10.1203/PDR.0b013e3180a0325f
*cite journal | author=Keeratichamroen S, Cairns JR, Sawangareetrakul P, "et al." |title=Novel mutations found in two genes of thai patients with isolated methylmalonic acidemia. |journal=Biochem. Genet. |volume=45 |issue= 5-6 |pages= 421–30 |year= 2007 |pmid= 17410422 |doi= 10.1007/s10528-007-9085-y
*cite journal | author=Kimura K, Wakamatsu A, Suzuki Y, "et al." |title=Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. |journal=Genome Res. |volume=16 |issue= 1 |pages= 55–65 |year= 2006 |pmid= 16344560 |doi= 10.1101/gr.4039406
*cite journal | author=Martínez MA, Rincón A, Desviat LR, "et al." |title=Genetic analysis of three genes causing isolated methylmalonic acidemia: identification of 21 novel allelic variants. |journal=Mol. Genet. Metab. |volume=84 |issue= 4 |pages= 317–25 |year= 2005 |pmid= 15781192 |doi= 10.1016/j.ymgme.2004.11.011
*cite journal | author=Gerhard DS, Wagner L, Feingold EA, "et al." |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504
*cite journal | author=Leal NA, Olteanu H, Banerjee R, Bobik TA |title=Human ATP:Cob(I)alamin adenosyltransferase and its interaction with methionine synthase reductase. |journal=J. Biol. Chem. |volume=279 |issue= 46 |pages= 47536–42 |year= 2005 |pmid= 15347655 |doi= 10.1074/jbc.M405449200
*cite journal | author=Leal NA, Park SD, Kima PE, Bobik TA |title=Identification of the human and bovine ATP:Cob(I)alamin adenosyltransferase cDNAs based on complementation of a bacterial mutant. |journal=J. Biol. Chem. |volume=278 |issue= 11 |pages= 9227–34 |year= 2003 |pmid= 12514191 |doi= 10.1074/jbc.M212739200
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Dobson CM, Wai T, Leclerc D, "et al." |title=Identification of the gene responsible for the cblB complementation group of vitamin B12-dependent methylmalonic aciduria. |journal=Hum. Mol. Genet. |volume=11 |issue= 26 |pages= 3361–9 |year= 2003 |pmid= 12471062 |doi=
*cite journal | author=Robertson NG, Khetarpal U, Gutiérrez-Espeleta GA, "et al." |title=Isolation of novel and known genes from a human fetal cochlear cDNA library using subtractive hybridization and differential screening. |journal=Genomics |volume=23 |issue= 1 |pages= 42–50 |year= 1995 |pmid= 7829101 |doi= 10.1006/geno.1994.1457

PBB_Controls
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update_protein_box = yes
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