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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for PTH1R (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID5745
Official gene symbolPTH1R
Full nameparathyroid hormone 1 receptor
Aliases,MGC138426,MGC138452,PFE,PTHR,PTHR1,
Gene summaryThe 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]
LocationChromosome: 3   Locus: 3p22-p21.1
Gene position46919236 - 46945289  Map Viewer
Gene orientationplus
Gene size26054 bp
Gene sequence
OMIM ID168468