Gene Symbol | PLCB1 |
Entrez Gene ID | 23236 |
Full Name | phospholipase C beta 1 |
Synonyms | EIEE12,PI-PLC,PLC-154,PLC-I,PLC-beta-1,PLC154,PLCB1A,PLCB1B |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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 gene 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. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Epileptic encephalopathy, early infantile, 12, 613722 (3) |