3jui: Difference between revisions

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===Crystal Structure of the C-terminal Domain of Human Translation Initiation Factor eIF2B epsilon Subunit===

===~~Crystal Structure~~ of the C-~~terminal Domain~~ of ~~Human Translation Initiation Factor eIF2B epsilon Subunit===~~

==Disease==

[[http://www.uniprot.org/uniprot/EI2BE_HUMAN EI2BE_HUMAN]] Defects in EIF2B5 are a cause of leukodystrophy with vanishing white matter (VWM) [MIM:[http://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==

[[http://www.uniprot.org/uniprot/EI2BE_HUMAN EI2BE_HUMAN]] Catalyzes the exchange of eukaryotic initiation factor 2-bound GDP for GTP.

==About this Structure==

~~3JUI~~ is a 1 chain structure of sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=3JUI OCA].

[[3jui]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=3JUI OCA].

==Reference==

[[Category: Homo sapiens]]

[[Category: Gao, F.]]

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[[Category: Leukodystrophy]]

[[Category: Phosphoprotein]]

~~[[Category: Polymorphism]]~~

[[Category: Protein biosynthesis]]

[[Category: Translation]]

[[Category: Translation initiation factor]]

~~''Page seeded by [http://oca.weizmann.ac.il/oca OCA ] on Wed Oct 7 14:14:27 2009''~~

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@@ Line 1: / Line 1: @@
-{{Seed}}
-[[Image:3jui.jpg|left|200px]]
-<!--
-The line below this paragraph, containing "STRUCTURE_3jui", creates the "Structure Box" on the page.
-You may change the PDB parameter (which sets the PDB file loaded into the applet)
-or the SCENE parameter (which sets the initial scene displayed when the page is loaded),
-or leave the SCENE parameter empty for the default display.
--->
 {{STRUCTURE_3jui|  PDB=3jui  |  SCENE=  }}
+===Crystal Structure of the C-terminal Domain of Human Translation Initiation Factor eIF2B epsilon Subunit===
+{{ABSTRACT_PUBMED_021204011}}
-===Crystal Structure of the C-terminal Domain of Human Translation Initiation Factor eIF2B epsilon Subunit===
+==Disease==
+[[http://www.uniprot.org/uniprot/EI2BE_HUMAN EI2BE_HUMAN]] Defects in EIF2B5 are a cause of leukodystrophy with vanishing white matter (VWM) [MIM:[http://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==
+[[http://www.uniprot.org/uniprot/EI2BE_HUMAN EI2BE_HUMAN]] Catalyzes the exchange of eukaryotic initiation factor 2-bound GDP for GTP.
 ==About this Structure==
-JUI is a 1 chain structure of sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=3JUI OCA].
+[[3jui]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=3JUI OCA].
+==Reference==
+<references group="xtra"/><references/>
 [[Category: Homo sapiens]]
 [[Category: Gao, F.]]
@@ Line 28: / Line 27: @@
 [[Category: Leukodystrophy]]
 [[Category: Phosphoprotein]]
-[[Category: Polymorphism]]
 [[Category: Protein biosynthesis]]
+[[Category: Translation]]
 [[Category: Translation initiation factor]]
-''Page seeded by [http://oca.weizmann.ac.il/oca OCA ] on Wed Oct  7 14:14:27 2009''