G-protein-coupled receptors in endocrine disease

摘要

The G-protein-coupled receptors (GPCRs) are a large family of cell-surface receptors that respond to extracellular stimuli by mediating signal transduction via an associated guanosine-triphosphate-binding protein (G-protein). Molecular techniques have recently implicated mutations in GPCR genes in the pathogen-esis of a variety of human endocrine disorders (Table 1). The resulting disease phenotype is determined by the functional consequences of these mutations. We review the role of activating, inactivating and potentially immunogenic mutations of GPCR genes in these disorders.