The protein encoded by this gene belongs to the family of guanine nucleotide-binding proteins (G proteins), which function as modulators or transducers in various transmembrane signaling systems. G proteins are composed of 3 units: alpha, beta and gamma. This gene encodes one of the alpha subunits (subunit alpha-11). Mutations in this gene have been associated with hypocalciuric hypercalcemia type II (HHC2) and hypocalcemia dominant 2 (HYPOC2). Patients with HHC2 and HYPOC2 exhibit decreased or increased sensitivity, respectively, to changes in extracellular calcium concentrations.
Pathway
ADP signalling through P2Y purinoceptor 1; Amoebiasis; Amoebiasis; Arf6 signaling events; Calcium Regulation in the Cardiac Cell; Calcium signaling pathway; Calcium signaling pathway; Chagas disease (American trypanosomiasis); Cholinergic synapse; Corticotropin-releasing hormone; G Protein Signaling Pathways;
Citations
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