PLCB1
Function
Catalyzes the hydrolysis of 1-phosphatidylinositol 4,5-bisphosphate into diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) and mediates intracellular signaling downstream of G protein-coupled receptors (PubMed:9188725). Regulates the function of the endothelial barrier.
Involvement in disease
Developmental and epileptic encephalopathy 12
DEE12
A form of epilepsy characterized by frequent tonic seizures or spasms beginning in infancy with a specific EEG finding of suppression-burst patterns, characterized by high-voltage bursts alternating with almost flat suppression phases. Patients may progress to West syndrome, which is characterized by tonic spasms with clustering, arrest of psychomotor development, and hypsarrhythmia on EEG.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Palmitoylated. Palmitoylation at Cys-17 by ZDHHC21 regulates the signaling activity of PLCB1 and the function of the endothelial barrier. Palmitoylation by ZDHHC21 is stimulated by inflammation.
Cellular localization
- Nucleus membrane
- Cytoplasm
- Colocalizes with the adrenergic receptors, ADREN1A and ADREN1B, at the nuclear membrane of cardiac myocytes.
Alternative names
KIAA0581, PLCB1, PLC-154, Phosphoinositide phospholipase C-beta-1, Phospholipase C-I, Phospholipase C-beta-1, PLC-I, PLC-beta-1