PTH1R, Official Symbol PTH1Rprovided by HGNC Official Full Name parathyroid hormone 1 receptorprovided by HGNC Primary source HGNC:HGNC:9608 See related Ensembl:ENSG00000160801 MIM:168468; AllianceGenome:HGNC:9608 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PFE; EKNS; PTHR; PTHR1 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] Expression Biased expression in kidney (RPKM 58.6), adrenal (RPKM 5.4) and 2 other tissues See more Orthologs mouse all