2k2j: Difference between revisions
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{{STRUCTURE_2k2j| PDB=2k2j | SCENE= }} | {{STRUCTURE_2k2j| PDB=2k2j | SCENE= }} | ||
===NMR solution structure of the split PH domain from Phospholipase C gamma 2=== | |||
{{ABSTRACT_PUBMED_18728011}} | |||
=== | ==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> | |||
==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:018728011</ref><references group="xtra"/> | <ref group="xtra">PMID:018728011</ref><references group="xtra"/><references/> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Phosphoinositide phospholipase C]] | [[Category: Phosphoinositide phospholipase C]] | ||