View source for 9ssv


==Human Methionine Synthase With Methylcobalamin, Activation Domain From Full-Length==
<StructureSection load='9ssv' size='340' side='right'caption='[[9ssv]], [[Resolution|resolution]] 3.09&Aring;' scene=''>
== Structural highlights ==
<table><tr><td colspan='2'>[[9ssv]] is a 1 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=9SSV OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=9SSV FirstGlance]. <br>
</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">Electron Microscopy, [[Resolution|Resolution]] 3.09&#8491;</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=9ssv FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=9ssv OCA], [https://pdbe.org/9ssv PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=9ssv RCSB], [https://www.ebi.ac.uk/pdbsum/9ssv PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=9ssv ProSAT]</span></td></tr>
</table>
== 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 ==
[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).
== References ==
<references/>
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</StructureSection>
[[Category: Homo sapiens]]
[[Category: Large Structures]]
[[Category: Ferreira DSM]]
[[Category: McCorvie TJ]]
[[Category: Yue WW]]