TSH Receptor gene is a membrane protein and a major controller of thyroid cell metabolism. The encoded protein is a receptor for thyrothropin and thyrostimulin, and its activity is mediated by adenylate cyclase. Defects in this gene are a cause of several types of hyperthyroidism. Three transcript variants encoding different isoforms have been found for this gene.
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Protein Aliases: MGC141920; seven transmembrane helix receptor; thyroid stimulating hormone receptor, isoform 2; Thyroid-stimulating hormone receptor; Thyrotropin receptor; thyrotropin receptor-I, hTSHR-I; TSH-R
Gene Aliases: AI481368; CHNG1; hTSHR-I; hypothroid; hyt; LGR3; pet; TSHR; TSHRA
Molecular Function: G-protein coupled receptor