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PTHR / PTHR1 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.
Gene Name: | parathyroid hormone 1 receptor |
Family/Subfamily: | GPCR , Parathyroid hormone |
Synonyms: | PTH1R, Parathyroid hormone 1 receptor, Parathyroid hormone receptor 1, PFE, Pth-related peptide receptor, PTHR, PTH/PTHr receptor, Pth/pthrp receptor, Parathyroid hormone receptor, PTH/PTHrP type I receptor, PTH1 receptor, PTHR1, PTHrP-R, PTHrP-receptor |
Target Sequences: | NM_000316 NP_000307.1 Q03431 |
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