PLCB1 gene

phospholipase C beta 1

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by activated phosphatidylinositol-specific phospholipase C enzymes.

From NCBI Gene:

  • Early infantile epileptic encephalopathy 12

From UniProt:

Epileptic encephalopathy, early infantile, 12 (EIEE12): 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. [MIM:613722]

Cytogenetic Location: 20p12.3, which is the short (p) arm of chromosome 20 at position 12.3

Molecular Location: base pairs 8,132,236 to 8,884,911 on chromosome 20 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 20p12.3, which is the short (p) arm of chromosome 20 at position 12.3
  • EIEE12
  • PI-PLC
  • PLC-154
  • PLC-beta-1
  • PLC-I
  • PLC154
  • PLCB1A
  • PLCB1B