PLCB1

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.

PLCB1 has been shown to interact with TRPM7.{{cite journal | vauthors = Runnels LW, Yue L, Clapham DE | title = The TRPM7 channel is inactivated by PIP(2) hydrolysis | journal = Nat. Cell Biol. | volume = 4 | issue = 5 | pages = 329–36 | date = May 2002 | pmid = 11941371 | doi = 10.1038/ncb781 | s2cid = 21592843 }}

Homozygous PLCB1 deletion is associated with malignant migrating partial seizures in infancy.{{cite journal | vauthors = Poduri A, Chopra SS, Neilan EG, Elhosary PC, Kurian MA, Meyer E, Barry BJ, Khwaja OS, Salih MA, Stödberg T, Scheffer IE, Maher ER, Sahin M, Wu BL, Berry GT, Walsh CA, Picker J, Kothare SV | title = Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy | journal = Epilepsia | volume = 53 | issue = 8 | pages = e146–50 | year = 2012 | pmid = 22690784 | pmc = 3851296 | doi = 10.1111/j.1528-1167.2012.03538.x }}

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{{Esterases}}

{{Enzymes}}

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Category:EC 3.1.4

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