7l7g: Difference between revisions
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New page: '''Unreleased structure''' The entry 7l7g is ON HOLD Authors: Description: Category: Unreleased Structures |
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The | ==Electron cryo-microscopy of the eukaryotic translation initiation factor 2B from Homo sapiens (updated model of PDB ID: 6CAJ)== | ||
<StructureSection load='7l7g' size='340' side='right'caption='[[7l7g]], [[Resolution|resolution]] 3.00Å' scene=''> | |||
== Structural highlights == | |||
<table><tr><td colspan='2'>[[7l7g]] 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=7L7G OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=7L7G 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]] 3Å</td></tr> | |||
<tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=C7B:2-(4-chloranylphenoxy)-~{N}-[4-[2-(4-chloranylphenoxy)ethanoylamino]cyclohexyl]ethanamide'>C7B</scene></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=7l7g FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=7l7g OCA], [https://pdbe.org/7l7g PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=7l7g RCSB], [https://www.ebi.ac.uk/pdbsum/7l7g PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=7l7g 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. | |||
==See Also== | |||
*[[Eukaryotic initiation factor 3D structures|Eukaryotic initiation factor 3D structures]] | |||
== References == | |||
[[Category: | <references/> | ||
__TOC__ | |||
</StructureSection> | |||
[[Category: Homo sapiens]] | |||
[[Category: Large Structures]] | |||
[[Category: Anand A]] | |||
[[Category: Frost A]] | |||
[[Category: Jaishankar P]] | |||
[[Category: Miller-Vedam LE]] | |||
[[Category: Nguyen HC]] | |||
[[Category: Renslo AR]] | |||
[[Category: Tsai JC]] | |||
[[Category: Walter P]] | |||
[[Category: Wang L]] | |||
Latest revision as of 17:59, 6 March 2024
Electron cryo-microscopy of the eukaryotic translation initiation factor 2B from Homo sapiens (updated model of PDB ID: 6CAJ)Electron cryo-microscopy of the eukaryotic translation initiation factor 2B from Homo sapiens (updated model of PDB ID: 6CAJ)
Structural highlights
DiseaseEI2BE_HUMAN Defects in EIF2B5 are a cause of leukodystrophy with vanishing white matter (VWM) [MIM: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.[1] [2] [3] [4] [5] [6] FunctionEI2BE_HUMAN Catalyzes the exchange of eukaryotic initiation factor 2-bound GDP for GTP. See AlsoReferences
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