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pth1r

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Official Full Name
parathyroid hormone 1 receptor
Background
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 Jansens metaphyseal chondrodysplasia (JMC), chondrodysplasia Blomstrand type (BOCD), as well as enchodromatosis. Two transcript variants encoding the same protein have been found for this gene.
Synonyms
PTH1R; parathyroid hormone 1 receptor; parathyroid hormone receptor 1 , PTHR, PTHR1; parathyroid hormone/parathyroid hormone-related peptide receptor; PTH1 receptor; PTH/PTHr receptor; PTH/PTHrP type I receptor; parathyroid hormone receptor 1; seven trans; seven transmembrane helix receptor; parathyroid hormone/parathyroid hormone-related protein receptor; PFE; PTHR; PTHR1; MGC138426; MGC138452; PTHR1;PTH1R