2qtl
From Proteopedia
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{{STRUCTURE_2qtl| PDB=2qtl | SCENE= }} | {{STRUCTURE_2qtl| PDB=2qtl | SCENE= }} | ||
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===Crystal Structure of the FAD-containing FNR-like Module of Human Methionine Synthase Reductase=== | ===Crystal Structure of the FAD-containing FNR-like Module of Human Methionine Synthase Reductase=== | ||
| + | {{ABSTRACT_PUBMED_17892308}} | ||
| - | + | ==Disease== | |
| + | [[http://www.uniprot.org/uniprot/MTRR_HUMAN MTRR_HUMAN]] Defects in MTRR are the cause of methylcobalamin deficiency type E (cblE) [MIM:[http://omim.org/entry/236270 236270]]; also known as vitamin B12-responsive homocystinuria or homocystinuria-megaloblastic anemia complementation type E. Patients who are defective in reductive activation of methionine synthase exhibit megaloblastic anemia, developmental delay, hypomethioninemia, and hyperhomocysteinemia, a risk factor in cardiovascular disease and neural tube defects. It is an autosomal recessive disease. Defects in MTRR may be a cause of susceptibility to folate-sensitive neural tube defects (FS-NTD) [MIM:[http://omim.org/entry/601634 601634]]. The most common NTDs are open spina bifida (myelomeningocele) and anencephaly. Genetic defects in MTRR may affect the risk of spina bifida via the maternal rather than the embryonic genotype.<ref>PMID:10444342</ref><ref>PMID:12375236</ref><ref>PMID:15979034</ref> | ||
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| + | ==Function== | ||
| + | [[http://www.uniprot.org/uniprot/MTRR_HUMAN MTRR_HUMAN]] Involved in the reductive regeneration of cob(I)alamin cofactor required for the maintenance of methionine synthase in a functional state. | ||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
| - | <ref group="xtra">PMID:017892308</ref><references group="xtra"/> | + | <ref group="xtra">PMID:017892308</ref><references group="xtra"/><references/> |
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Leys, D.]] | [[Category: Leys, D.]] | ||
Revision as of 04:40, 25 March 2013
Contents |
Crystal Structure of the FAD-containing FNR-like Module of Human Methionine Synthase Reductase
Template:ABSTRACT PUBMED 17892308
Disease
[MTRR_HUMAN] Defects in MTRR are the cause of methylcobalamin deficiency type E (cblE) [MIM:236270]; also known as vitamin B12-responsive homocystinuria or homocystinuria-megaloblastic anemia complementation type E. Patients who are defective in reductive activation of methionine synthase exhibit megaloblastic anemia, developmental delay, hypomethioninemia, and hyperhomocysteinemia, a risk factor in cardiovascular disease and neural tube defects. It is an autosomal recessive disease. Defects in MTRR may be a cause of susceptibility to folate-sensitive neural tube defects (FS-NTD) [MIM:601634]. The most common NTDs are open spina bifida (myelomeningocele) and anencephaly. Genetic defects in MTRR may affect the risk of spina bifida via the maternal rather than the embryonic genotype.[1][2][3]
Function
[MTRR_HUMAN] Involved in the reductive regeneration of cob(I)alamin cofactor required for the maintenance of methionine synthase in a functional state.
About this Structure
2qtl is a 1 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.
Reference
- Wolthers KR, Lou X, Toogood HS, Leys D, Scrutton NS. Mechanism of coenzyme binding to human methionine synthase reductase revealed through the crystal structure of the FNR-like module and isothermal titration calorimetry. Biochemistry. 2007 Oct 23;46(42):11833-44. Epub 2007 Sep 25. PMID:17892308 doi:10.1021/bi701209p
- ↑ Wilson A, Platt R, Wu Q, Leclerc D, Christensen B, Yang H, Gravel RA, Rozen R. A common variant in methionine synthase reductase combined with low cobalamin (vitamin B12) increases risk for spina bifida. Mol Genet Metab. 1999 Aug;67(4):317-23. PMID:10444342 doi:10.1006/mgme.1999.2879
- ↑ Doolin MT, Barbaux S, McDonnell M, Hoess K, Whitehead AS, Mitchell LE. Maternal genetic effects, exerted by genes involved in homocysteine remethylation, influence the risk of spina bifida. Am J Hum Genet. 2002 Nov;71(5):1222-6. Epub 2002 Oct 9. PMID:12375236 doi:S0002-9297(07)60417-0
- ↑ O'Leary VB, Mills JL, Pangilinan F, Kirke PN, Cox C, Conley M, Weiler A, Peng K, Shane B, Scott JM, Parle-McDermott A, Molloy AM, Brody LC. Analysis of methionine synthase reductase polymorphisms for neural tube defects risk association. Mol Genet Metab. 2005 Jul;85(3):220-7. Epub 2005 Mar 17. PMID:15979034 doi:S1096-7192(05)00052-1
