PLCB4

PLCB4 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 in the retina.

Full Name

Phospholipase C beta 4

Function

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. This form has a role in retina signal transduction.

Biological Process

G protein-coupled receptor signaling pathwayTAS:Reactome
Lipid catabolic processIEA:UniProtKB-KW
Phosphatidylinositol-mediated signalingManual Assertion Based On ExperimentIBA:GO_Central

Cellular Location

Cytosol

Involvement in disease

Auriculocondylar syndrome 2 (ARCND2):
A craniofacial malformation syndrome characterized by variable mandibular anomalies, including mild to severe micrognathia, temporomandibular joint ankylosis, cleft palate, and a characteristic ear malformation that consists of separation of the lobule from the external ear, giving the appearance of a question mark (question-mark ear). Other frequently described features include prominent cheeks, cupped and posteriorly rotated ears, preauricular tags, and microstomia.