2w2x
From Proteopedia
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{{STRUCTURE_2w2x| PDB=2w2x | SCENE= }} | {{STRUCTURE_2w2x| PDB=2w2x | SCENE= }} | ||
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===COMPLEX OF RAC2 AND PLCG2 SPPH DOMAIN=== | ===COMPLEX OF RAC2 AND PLCG2 SPPH DOMAIN=== | ||
| + | {{ABSTRACT_PUBMED_19394299}} | ||
| - | + | ==Disease== | |
| + | [[http://www.uniprot.org/uniprot/PLCG2_HUMAN PLCG2_HUMAN]] Defects in PLCG2 are the cause of familial cold autoinflammatory syndrome type 3 (FCAS3) [MIM:[http://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> | ||
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| + | ==Function== | ||
| + | [[http://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. | ||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
| - | <ref group="xtra">PMID:019394299</ref><references group="xtra"/> | + | <ref group="xtra">PMID:019394299</ref><references group="xtra"/><references/> |
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Phosphoinositide phospholipase C]] | [[Category: Phosphoinositide phospholipase C]] | ||
Revision as of 20:49, 24 March 2013
Contents |
COMPLEX OF RAC2 AND PLCG2 SPPH DOMAIN
Template:ABSTRACT PUBMED 19394299
Disease
[PLCG2_HUMAN] Defects in PLCG2 are the cause of familial cold autoinflammatory syndrome type 3 (FCAS3) [MIM: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.[1]
Function
[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.
About this Structure
2w2x is a 4 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.
Reference
- Bunney TD, Opaleye O, Roe SM, Vatter P, Baxendale RW, Walliser C, Everett KL, Josephs MB, Christow C, Rodrigues-Lima F, Gierschik P, Pearl LH, Katan M. Structural insights into formation of an active signaling complex between Rac and phospholipase C gamma 2. Mol Cell. 2009 Apr 24;34(2):223-33. PMID:19394299 doi:10.1016/j.molcel.2009.02.023
- ↑ Ombrello MJ, Remmers EF, Sun G, Freeman AF, Datta S, Torabi-Parizi P, Subramanian N, Bunney TD, Baxendale RW, Martins MS, Romberg N, Komarow H, Aksentijevich I, Kim HS, Ho J, Cruse G, Jung MY, Gilfillan AM, Metcalfe DD, Nelson C, O'Brien M, Wisch L, Stone K, Douek DC, Gandhi C, Wanderer AA, Lee H, Nelson SF, Shianna KV, Cirulli ET, Goldstein DB, Long EO, Moir S, Meffre E, Holland SM, Kastner DL, Katan M, Hoffman HM, Milner JD. Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions. N Engl J Med. 2012 Jan 26;366(4):330-8. doi: 10.1056/NEJMoa1102140. Epub 2012 Jan, 11. PMID:22236196 doi:10.1056/NEJMoa1102140
