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GNAQ encodes the Gαq subunit, a key component of heterotrimeric G proteins involved in transmembrane signaling. Upon activation by GPCRs, Gαq activates phospholipase C-beta (PLCβ), leading to the production of DAG and IP3, which regulate PKC and calcium signaling, respectively. Mutations in GNAQ, particularly R183Q, are associated with Sturge-Weber syndrome, characterized by abnormal blood vessel formation. Dysregulation of Gαq signaling is also implicated in platelet dysfunction and heart failure.
Activates phospholipase C-beta (PLCβ), leading to the production of diacylglycerol (DAG) and inositol trisphosphate (IP3). DAG activates protein kinase C (PKC), and IP3 mobilizes intracellular calcium stores.
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