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
update_page = yes
require_manual_inspection = no
update_protein_box = yes
update_summary = yes
update_citations = yes


Wikimedia Foundation. 2010.

Игры ⚽ Нужна курсовая?

Look at other dictionaries:

  • Mevalonate kinase — Crystallographic structure of mevalonate kinase from Staphylococcus aureus.[1] Identifiers …   Wikipedia

  • Metabolism — Cell metabolism redirects here. For the journal, see Cell Metabolism. Structure of adenosine triphosphate, a central intermediate in energy metabolism Metabolism (from Greek: μεταβολή metabolē , change or Greek: μεταβολισμός metabolismos,… …   Wikipedia

  • Dihydrofolate reductase — Ribbon diagram of human dihydrofolate reductase in complex with folate (blue). From PDB 1DRF …   Wikipedia

  • Methylmalonic acidemia — Classification and external resources Methylmalonic acid ICD 10 E …   Wikipedia

  • Methylenetetrahydrofolate reductase — methylene tetrahydrofolate reductase [NAD(P)H] Ribbon diagram of the active site of E. coli MTHFR. The flavin cofactor (top) is shown interacting with the bound substrate NADH.[1] …   Wikipedia

  • Marine Modeling and Analysis Branch — The United States Marine Modeling and Analysis Branch (MMAB) is part of the Environmental Modeling Center, which is responsible for the development of improved numerical weather and marine prediction modeling systems within NCEP/NWS. It provides… …   Wikipedia

  • Chromosome 12 (human) — Chromosome 12 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 12 spans about 143 million base pairs (the building material of DNA) and represents between 4 and 4.5 percent of the… …   Wikipedia

  • Methylmalonyl-CoA mutase — Rendering based on PDB 2XIJ …   Wikipedia

  • Pantothenate kinase — (PanK; CoaA) is the first enzyme in the Coenzyme A biosynthetic pathway. It phophorylates pantothenate (vitamin B5) to form 4 phosphopantothenate. Types Three distinct types of PanK has been identified PanK I (found in bacteria), PanK II (mainly… …   Wikipedia

  • PCBD1 — Pterin 4 alpha carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha PDB rendering based on 1dch …   Wikipedia

Share the article and excerpts

Direct link
Do a right-click on the link above
and select “Copy Link”