Gene: TSHR

Alternate names for this Gene: CHNG1|LGR3|hTSHR-I

Gene Summary: The protein encoded by this 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.

Gene is located in Chromosome: 14

Location in Chromosome : 14q31.1

Description of this Gene: thyroid stimulating hormone receptor

Type of Gene: protein-coding

rs10145099 in TSHR gene and Graves Disease PMID 21841780 2011 A genome-wide association study identifies two new risk loci for Graves' disease.

PMID 22922229 2012 Seven newly identified loci for autoimmune thyroid disease.