Aliases for PTH1R Gene
External Ids for PTH1R Gene
Previous HGNC Symbols for PTH1R Gene
Previous GeneCards Identifiers for PTH1R Gene
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]
GeneCards Summary for PTH1R Gene
PTH1R (Parathyroid Hormone 1 Receptor) is a Protein Coding gene. Diseases associated with PTH1R include metaphyseal chondrodysplasia, murk jansen type and chondrodysplasia, blomstrand type. Among its related pathways are Signaling by GPCR and Endochondral Ossification. GO annotations related to this gene include G-protein coupled receptor activity and protein self-association. An important paralog of this gene is VIPR2.
UniProtKB/Swiss-Prot for PTH1R Gene
This is a receptor for parathyroid hormone and for parathyroid hormone-related peptide. The activity of this receptor is mediated by G proteins which activate adenylyl cyclase and also a phosphatidylinositol-calcium second messenger system.