Species Human Entrez 23236 | Human Mouse Ensembl ENSG00000182621 | |
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Aliases PLCB1, EIEE12, PI-PLC, PLC-154, PLC-I, PLC154, PLCB1A, PLCB1B, PLC-beta-1, phospholipase C beta 1 External IDs MGI: 97613 HomoloGene: 22876 GeneCards: PLCB1 | ||
1-Phosphatidylinositol-4,5-bisphosphate phosphodiesterase beta-1 is an enzyme that in humans is encoded by the PLCB1 gene.
Contents
Function
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.
Interactions
PLCB1 has been shown to interact with TRPM7.
Pathology
Homozygous PLCB1 deletion is associated with malignant migrating partial seizures in infancy.
References
PLCB1 Wikipedia(Text) CC BY-SA