2o2k: Difference between revisions
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<StructureSection load='2o2k' size='340' side='right'caption='[[2o2k]], [[Resolution|resolution]] 1.60Å' scene=''> | <StructureSection load='2o2k' size='340' side='right'caption='[[2o2k]], [[Resolution|resolution]] 1.60Å' scene=''> | ||
== Structural highlights == | == Structural highlights == | ||
<table><tr><td colspan='2'>[[2o2k]] is a 2 chain structure with sequence from [https://en.wikipedia.org/wiki/ | <table><tr><td colspan='2'>[[2o2k]] is a 2 chain structure with sequence from [https://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2O2K OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2O2K FirstGlance]. <br> | ||
</td></tr><tr id=' | </td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">X-ray diffraction, [[Resolution|Resolution]] 1.6Å</td></tr> | ||
<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=2o2k FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2o2k OCA], [https://pdbe.org/2o2k PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2o2k RCSB], [https://www.ebi.ac.uk/pdbsum/2o2k PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2o2k ProSAT]</span></td></tr> | <tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=2o2k FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2o2k OCA], [https://pdbe.org/2o2k PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2o2k RCSB], [https://www.ebi.ac.uk/pdbsum/2o2k PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2o2k ProSAT]</span></td></tr> | ||
</table> | </table> | ||
== Disease == | == Disease == | ||
[https://www.uniprot.org/uniprot/METH_HUMAN METH_HUMAN] Defects in MTR are the cause of methylcobalamin deficiency type G (cblG) [MIM:[https://omim.org/entry/250940 250940]; also known as homocystinuria-megaloblastic anemia complementation type G. It is an autosomal recessive inherited disease that causes mental retardation, macrocytic anemia, and homocystinuria. Mild deficiency in MS activity could be associated with mild hyperhomocysteinemia, a risk factor for cardiovascular disease and possibly neural tube defects. MS mutations could also be involved in tumorigenesis. Defects in MTR may be a cause of susceptibility to folate-sensitive neural tube defects (FS-NTD) [MIM:[https://omim.org/entry/601634 601634]. The most common NTDs are open spina bifida (myelomeningocele) and anencephaly. Genetic defects in MTR may affect the risk of spina bifida via the maternal rather than the embryonic genotype.<ref>PMID:12375236</ref> <ref>PMID:15979034</ref> | |||
== Function == | == Function == | ||
[https://www.uniprot.org/uniprot/METH_HUMAN METH_HUMAN] Catalyzes the transfer of a methyl group from methyl-cobalamin to homocysteine, yielding enzyme-bound cob(I)alamin and methionine. Subsequently, remethylates the cofactor using methyltetrahydrofolate (By similarity). | |||
== Evolutionary Conservation == | == Evolutionary Conservation == | ||
[[Image:Consurf_key_small.gif|200px|right]] | [[Image:Consurf_key_small.gif|200px|right]] | ||
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</div> | </div> | ||
<div class="pdbe-citations 2o2k" style="background-color:#fffaf0;"></div> | <div class="pdbe-citations 2o2k" style="background-color:#fffaf0;"></div> | ||
==See Also== | |||
*[[Methionine synthase 3D structures|Methionine synthase 3D structures]] | |||
== References == | == References == | ||
<references/> | <references/> | ||
__TOC__ | __TOC__ | ||
</StructureSection> | </StructureSection> | ||
[[Category: | [[Category: Homo sapiens]] | ||
[[Category: Large Structures]] | [[Category: Large Structures]] | ||
[[Category: Jowitt TA]] | |||
[[Category: Jowitt | [[Category: Leys D]] | ||
[[Category: Leys | [[Category: Marshall KR]] | ||
[[Category: Marshall | [[Category: Scrutton NS]] | ||
[[Category: Scrutton | [[Category: Toogood HS]] | ||
[[Category: Toogood | [[Category: Wolthers KR]] | ||
[[Category: Wolthers | |||