PTH1R gene

parathyroid hormone 1 receptor

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

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.

From NCBI Gene:

  • Metaphyseal chondrodysplasia, Jansen type
  • Eiken skeletal dysplasia
  • Failure of tooth eruption, primary
  • Chondrodysplasia Blomstrand type

From UniProt:

Jansen metaphyseal chondrodysplasia (JMC): Rare autosomal dominant disorder characterized by a short-limbed dwarfism associated with hypercalcemia and normal or low serum concentrations of the two parathyroid hormones. [MIM:156400]

Eiken skeletal dysplasia (EISD): 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. [MIM:600002]

Primary failure of tooth eruption (PFE): 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. [MIM:125350]

Chondrodysplasia Blomstrand type (BOCD): Severe skeletal dysplasia. [MIM:215045]

Enchondromatosis multiple (ENCHOM): 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. [MIM:166000]

Cytogenetic Location: 3p22-p21.1, which is the short (p) arm of chromosome 3 between positions 22 and 21.1

Molecular Location: base pairs 46,877,690 to 46,903,799 on chromosome 3 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 3p22-p21.1, which is the short (p) arm of chromosome 3 between positions 22 and 21.1
  • PFE
  • PTHR
  • PTHR1