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.
Aliases: PFE; PTHR; PTHR1; MGC138426; MGC138452; PTH1R
Entrez GeneID: 5745
Swissprot : Q03431
WB Predicted band size: 66kDa
Host/Isotype: Mouse IgG1
Species Reactivity: Human,Mouse
Immunogen: Purified recombinant fragment of human PTH1R expressed in E. Coli.