Aliases for PTH1R Gene
External Ids for PTH1R Gene
Previous Symbols 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 eiken syndrome. Among its related pathways are Signaling by GPCR and Signaling by GPCR. GO annotations related to this gene include protein self-association and parathyroid hormone receptor activity. 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.
Parathyroid hormone (PTH) receptors are a group of Gs-protein-coupled receptors, currently divided into two subtypes; PTH1 and PTH2. Each subtype has a distinct distribution and mediates different biological actions. PTH1 is ubiquitously expressed, but is found at particularly high levels in skeletal muscle and the kidneys. PTH1 is involved in calcium and phosphate homeostasis and has a role in chondrocyte regulation. PTH2 expression is limited to the brain and testes. Its actions are proposed to include nociception and regulation of pituitary hormone secretion. The human genes encoding the PTH1 and PTH2 receptors are located on chromosomes 3p22-21.1 and 2q33 respectively.