PLCB1

Description

The PLCB1 (phospholipase C beta 1) is a protein-coding gene located on chromosome 20.

PLCB1, encoded by the PLCB1 gene in humans, is an enzyme that catalyzes the conversion of phosphatidylinositol 4,5-bisphosphate into inositol 1,4,5-trisphosphate and diacylglycerol. This process, which utilizes calcium as a cofactor, is vital for intracellular signal transduction in response to many extracellular signals. PLCB1 is activated by two G-protein alpha subunits: alpha-q and alpha-11. Two distinct isoforms of PLCB1 are generated from different transcript variants. PLCB1 interacts with TRPM7. A homozygous deletion of the PLCB1 gene has been linked to malignant migrating partial seizures in infancy.

PLCB1 is also known as DEE12, EIEE12, PI-PLC, PLC-154, PLC-I, PLC-beta-1, PLC154, PLCB1A, PLCB1B.

Associated Diseases

• Infantile spasms syndrome
• Malignant migrating focal seizures of infancy
• Developmental and epileptic encephalopathy 12