PLCB1
Lua error in Module:Infobox_gene at line 53: attempt to index field 'wikibase' (a nil value). 1-Phosphatidylinositol-4,5-bisphosphate phospholipase beta-1 is an enzyme that in humans is encoded by the PLCB1 gene.[1][2][3]
Function
[edit | edit source]The protein encoded by this gene catalyzes the formation of inositol 1,4,5-trisphosphate and diacylglycerol from phosphatidylinositol 4,5-bisphosphate. This reaction uses calcium as a cofactor and plays an important role in the intracellular transduction of many extracellular signals. This enzyme is activated by two G-protein alpha subunits, alpha-q and alpha-11. Two transcript variants encoding different isoforms have been found for this gene.[3]
Interactions
[edit | edit source]PLCB1 has been shown to interact with TRPM7.[4]
Pathology
[edit | edit source]Homozygous PLCB1 deletion is associated with malignant migrating partial seizures in infancy.[5]
References
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Further reading
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