Gene Symbol | TSHR |
Entrez Gene ID | 7253 |
Full Name | thyroid stimulating hormone receptor |
Synonyms | CHNG1,LGR3,hTSHR-I |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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. [provided by RefSeq, Dec 2008]. |
Disorder MIM: | |
Disorder Html: | Hypothyroidism, congenital, nongoitrous, 1 275200 (3); Thyroid adenoma, hyperfunctioning, somatic (3); Hyperthyroidism, nonautoimmune, 609152 (3); Thyroid carcinoma with thyrotoxicosis (3); Hyperthyroidism, familial gestational, 603373 (3) |