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PTH1R/PTHR1 Protein, Antibody, ELISA Kit, cDNA Clone

PTH1R/PTHR1 Related Areas

PTH1R/PTHR1 Related Pathways

PTH1R/PTHR1 Related Product

    PTH1R/PTHR1 Summary & Protein Information

    PTH1R/PTHR1 Background

    Gene Summary: The protein encoded by PTH1R 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 PTH1R gene. [provided by RefSeq, May 2010]
    General information above from NCBI
    Subunit structure: Interacts (via N-terminal extracellular domain) with PTHLH and PTH. Homodimer in the absence of bound ligand. Peptide hormone binding leads to dissociation of the homodimer. Interacts (via C-terminus) with the heterodimer formed by GNG2 and GNB1.
    Subcellular location: Cell membrane; Multi-pass membrane protein.
    Tissue specificity: Expressed in most tissues. Most abundant in kidney, bone and liver.
    Involvement in disease: Jansen metaphyseal chondrodysplasia (JMC) [MIM:156400]: Rare autosomal dominant disorder characterized by a short-limbed dwarfism associated with hypercalcemia and normal or low serum concentrations of the two parathyroid hormones. Note=The disease is caused by mutations affecting the gene represented in this entry.
    Chondrodysplasia Blomstrand type (BOCD) [MIM:215045]: Severe skeletal dysplasia. Note=The disease is caused by mutations affecting the gene represented in this entry.
    Enchondromatosis multiple (ENCHOM) [MIM:166000]: A condition characterized by multiple formation of enchondromas, benign neoplasms derived from mesodermal cells that form cartilage. Enchondromas remain within the substance of a cartilage or bone. Clinical problems caused by enchondromas include skeletal deformity and the potential for malignant change to osteosarcoma. Note=The disease may be caused by mutations affecting the gene represented in this entry.
    Eiken skeletal dysplasia (EISD) [MIM:600002]: A rare skeletal dysplasia characterized by severely retarded ossification, principally of the epiphyses, pelvis, hands and feet, as well as by abnormal modeling of the bones in hands and feet, abnormal persistence of cartilage in the pelvis and mild growth retardation. Note=The disease is caused by mutations affecting the gene represented in this entry.
    Primary failure of tooth eruption (PFE) [MIM:125350]: Rare condition that has high penetrance and variable expressivity and in which tooth retention occurs without evidence of any obvious mechanical interference. Instead, malfunction of the eruptive mechanism itself appears to cause nonankylosed permanent teeth to fail to erupt, although the eruption pathway has been cleared by bone resorption. Note=The disease is caused by mutations affecting the gene represented in this entry.
    Sequence similarity: Belongs to the G-protein coupled receptor 2 family.
    General information above from UniProt

    Parathyroid hormone / parathyroid hormone-related peptide receptor, also known as PTH / PTHrP type I receptor, PTH/PTHr receptor, Parathyroid hormone 1 receptor, PTH1 receptor, PTH1R and PTHR, is a multi-pass membrane protein which belongs to the G-protein coupled receptor 2 family. PTH1R is expressed in most tissues. It is most abundant in kidney, bone and liver. PTH1R is expressed in high levels in bone and kidney and regulates calcium ion homeostasis through activation of adenylate cyclase and phospholipase C. In bone, PTH1R is expressed on the surface of osteoblasts. When the receptor is activated, these cells in turn stimulate osteoclasts to ultimately increase the resorption rate. PTH1R is a receptor for parathyroid hormone and for parathyroid hormone-related peptide. The activity of PTH1R is mediated by G proteins which activate adenylyl cyclase and also a phosphatidylinositol-calcium second messenger system. Defects in PTH1R are the cause of Jansen metaphyseal chondrodysplasia (JMC), chondrodysplasia Blomstrand type (BOCD), enchondromatosis multiple (ENCHOM), Eiken skeletal dysplasia (EISD) and primary failure of tooth eruption (PFE).

    PTH1R/PTHR1 Alternative Name

    MGC138426,MGC138452,PFE,PTH1R,PTHR,PTHR1, [human]
    PPR,Pth1r,Pthr,Pthr1, [mouse]

    PTH1R/PTHR1 Related Studies

  • Schipani E., et al., 1993, Endocrinology 132:2157-2165.
  • Hopyan S., et al., 2002, Nat. Genet. 30:306-310.
  • Bastepe M., et al., 2004, J. Clin. Endocrinol. Metab. 89:3595-3600.
  • Duchatelet S., et al., 2005, Hum. Mol. Genet. 14:1-5.
  • Decker E., et al., 2008, Am. J. Hum. Genet. 83:781-786.
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