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DOI: 10.1590/S0004-27302002000400008
This review summarizes the role of the molecular pathogenesis of Gsa protein gene in endocrine disease. G proteins transmit the cellular signal of 7 transmembrane receptors (7TM). Agonists as light photons, odorants and hormones (LH, FSH, TSH, PTH, etc) can activate the system. The effector of Gsa protein is adenyl-cyclase, which induces the formation of cAMP. The receptors that activate Gsa protein dissociates GDT into GTP, while the intrinsic GTPase activity hydrolyses GTP, keeping Gsa protein in its inactive state, […]
Keywords: GNAS1 gene; Gsalpha protein; Imprinting; mutations