Phospholipase C eta-1 (PLCH1)

Phospholipase C eta-1 (PLCH1) is an enzyme of the phosphoinositide-specific phospholipase C family, involved in the hydrolysis of phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2) to generate the second messengers diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3), a process critical for intracellular calcium signaling. PLCH1 features conserved domains typical of the PLC-eta family, including pleckstrin homology, EF-hand, C2, and catalytic X and Y domains, and is predominantly expressed in neuronal tissues and lung. Functional studies indicate essential roles in central nervous system signaling and neurodevelopment, with pathogenic variants causing holoprosencephaly spectrum disorders. Polymorphisms in PLCH1 are also associated with increased lung cancer risk, highlighting its involvement in both physiological signaling and disease pathogenesis.

Other names

KIAA1069PLCL3PLC-eta-1PLC-L3PLCeta1Phosphoinositide phospholipase C-eta-1Phospholipase C-like protein 3HPE14MGC117152DKFZp434C1372phospholipase C-eta1aphospholipase C-eta1b