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 Chondrodysplasia, Blomstrand Type and Metaphyseal Chondrodysplasia, Jansen Type. Among its related pathways are Presynaptic function of Kainate receptors and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include G-protein coupled receptor activity and protein self-association. An important paralog of this gene is PTH2R.
UniProtKB/Swiss-Prot for PTH1R Gene
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.