2qtz: Difference between revisions
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{{STRUCTURE_2qtz| PDB=2qtz | SCENE= }} | {{STRUCTURE_2qtz| PDB=2qtz | SCENE= }} | ||
===Crystal Structure of the NADP+-bound 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> | |||
==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.]] | ||
