Gene Symbol | PTH1R |
Entrez Gene ID | 5745 |
Full Name | parathyroid hormone 1 receptor |
Synonyms | PFE,PTHR,PTHR1 |
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 member of the G-protein coupled receptor family 2. This protein is a receptor for parathyroid hormone (PTH) and for parathyroid hormone-like hormone (PTHLH). The activity of this receptor is mediated by G proteins which activate adenylyl cyclase and also a phosphatidylinositol-calcium second messenger system. Defects in this receptor are known to be the cause of Jansen's metaphyseal chondrodysplasia (JMC), chondrodysplasia Blomstrand type (BOCD), as well as enchodromatosis. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, May 2010]. |
Disorder MIM: | |
Disorder Html: | Metaphyseal chondrodysplasia, Murk Jansen type, 156400 (3); Chondrodysplasia, Blomstrand type, 215045 (3); Eiken syndrome, 600002 (3); Failure of tooth eruption, primary, 125350 (3) |