GNAQ

Guanine nucleotide-binding proteins are a family of heterotrimeric proteins that couple cell surface, 7-transmembrane domain receptors to intracellular signaling pathways. Receptor activation catalyzes the exchange of GDP for GTP bound to the inactive G protein alpha subunit resulting in a conformational change and dissociation of the complex. The G protein alpha and beta-gamma subunits are capable of regulating various cellular effectors. Activation is terminated by a GTPase intrinsic to the G-alpha subunit. G-alpha-q is the alpha subunit of one of the heterotrimeric GTP-binding proteins that mediates stimulation of phospholipase C-beta (MIM 600230).[supplied by OMIM]^[7]

Mutations in this gene have been found associated to cases of Sturge–Weber syndrome and port-wine stains.^[8]

GNAQ has been shown to interact with:

• Beta adrenergic receptor kinase,^[9]
• Bruton's tyrosine kinase,^[10]
• RGS16
• RGS4^[11]
• RIC8A,^[12][13] and
• Sodium-hydrogen antiporter 3 regulator 1.^[14]

• List of genes mutated in pigmented cutaneous lesions