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phospholipase C, eta 1 (PLCH1)

Target: PLCH1
Molecular classification: Enzyme (phosphoinositide-specific phospholipase C superfamily), EF-hand domain containing protein, C2 domain containing protein

Overview

The canonical protein-coding gene, phospholipase C eta 1 (PLCH1), is a member of the phosphoinositide-specific phospholipase C (PLC) superfamily and encodes an enzyme that hydrolyzes phosphatidylinositol 4,5-bisphosphate (PIP2) to generate the second messengers inositol 1,4,5-trisphosphate (IP3) and diacylglycerol (DAG), regulating calcium signaling and intracellular signal transduction. PLCH1 is primarily expressed in neuronal tissues and the lung. Several transcript variants exist, with the major protein product being ~115 kDa. Genetic variants in PLCH1 have been tied to neurodevelopmental disorders and may modulate cancer risk. "Phospholipase C, eta 1 pseudogene" (ENSG00000248772), however, refers to a non-protein coding sequence with no known functional or therapeutic relevance[1][3][5].

Other names: PLCeta11-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-1KIAA1069DKFZp434C1372MGC117152phospholipase C-like 3 (PLCL3)

Mechanism of action

null

Biological functions

Signal transduction (hydrolyzes PtdIns(4,5)P2 to generate IP3 and DAG)Intracellular signalingCalcium signaling

Disease associations

Neurodevelopmental disorders (e.g., Holoprosencephaly 14/Alobar holoprosencephaly—a clinical role is reported for PLCH1, not PLCH1 pseudogene)Potential role in cancer risk (e.g., association with non-small cell lung cancer risk for PLCH1)

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