View source for 7trj


==The eukaryotic translation initiation factor 2B from Homo sapiens with a H160D mutation in the beta subunit==
<StructureSection load='7trj' size='340' side='right'caption='[[7trj]], [[Resolution|resolution]] 2.80&Aring;' scene=''>
== Structural highlights ==
<table><tr><td colspan='2'>[[7trj]] is a 10 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=7TRJ OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=7TRJ 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]] 2.8&#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=7trj FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=7trj OCA], [https://pdbe.org/7trj PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=7trj RCSB], [https://www.ebi.ac.uk/pdbsum/7trj PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=7trj ProSAT]</span></td></tr>
</table>
== Disease ==
[https://www.uniprot.org/uniprot/EI2BE_HUMAN EI2BE_HUMAN] Defects in EIF2B5 are a cause of leukodystrophy with vanishing white matter (VWM) [MIM:[https://omim.org/entry/603896 603896]. VWM is a leukodystrophy that occurs mainly in children. Neurological signs include progressive cerebellar ataxia, spasticity, inconstant optic atrophy and relatively preserved mental abilities. The disease is chronic-progressive with, in most individuals, additional episodes of rapid deterioration following febrile infections or minor head trauma. While childhood onset is the most common form of the disorder, some severe forms are apparent at birth. A severe, early-onset form seen among the Cree and Chippewayan populations of Quebec and Manitoba is called Cree leukoencephalopathy. Milder forms may not become evident until adolescence or adulthood. Some females with milder forms of the disease who survive to adolescence exhibit ovarian dysfunction. This variant of the disorder is called ovarioleukodystrophy.<ref>PMID:11704758</ref> <ref>PMID:12325082</ref> <ref>PMID:12707859</ref> <ref>PMID:15776425</ref> <ref>PMID:19158808</ref> <ref>PMID:21484434</ref> 
== Function ==
[https://www.uniprot.org/uniprot/EI2BE_HUMAN EI2BE_HUMAN] Catalyzes the exchange of eukaryotic initiation factor 2-bound GDP for GTP.
== References ==
<references/>
__TOC__
</StructureSection>
[[Category: Homo sapiens]]
[[Category: Large Structures]]
[[Category: Boone M]]
[[Category: Frost A]]
[[Category: Lawrence R]]
[[Category: Schoof M]]
[[Category: Walter P]]
[[Category: Wang L]]