View source for 8qju


==Structure of the human 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-2 (PLCG2) protein==
<StructureSection load='8qju' size='340' side='right'caption='[[8qju]], [[Resolution|resolution]] 3.50&Aring;' scene=''>
== Structural highlights ==
<table><tr><td colspan='2'>[[8qju]] 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=8QJU OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=8QJU 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]] 3.5&#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=8qju FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=8qju OCA], [https://pdbe.org/8qju PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=8qju RCSB], [https://www.ebi.ac.uk/pdbsum/8qju PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=8qju ProSAT]</span></td></tr>
</table>
== Disease ==
[https://www.uniprot.org/uniprot/PLCG2_HUMAN PLCG2_HUMAN] Defects in PLCG2 are the cause of familial cold autoinflammatory syndrome type 3 (FCAS3) [MIM:[https://omim.org/entry/614468 614468]. An autosomal dominant immune disorder characterized by the development of cutaneous urticaria, erythema, and pruritis in response to cold exposure. Affected individuals have variable additional immunologic defects, including antibody deficiency, decreased numbers of B cells, defective B cells, increased susceptibility to infection, and increased risk of autoimmune disorders.<ref>PMID:22236196</ref> 
== Function ==
[https://www.uniprot.org/uniprot/PLCG2_HUMAN PLCG2_HUMAN] The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by activated phosphatidylinositol-specific phospholipase C enzymes. It is a crucial enzyme in transmembrane signaling.
== References ==
<references/>
__TOC__
</StructureSection>
[[Category: Homo sapiens]]
[[Category: Large Structures]]
[[Category: Faille A]]
[[Category: Warren AJ]]