Parathyroid hormone 1 receptor
(Redirected from PTH1R)
Parathyroid hormone 1 receptor (PTH1R) is a protein that in humans is encoded by the PTH1R gene. It is a member of the G protein-coupled receptor family and is a receptor for parathyroid hormone (PTH) and for parathyroid hormone-related protein (PTHrP).
Function
The PTH1R is found in high concentrations 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, where it is involved in promoting bone turnover. In the kidney, it is involved in calcium reabsorption and phosphate excretion.
Clinical significance
Mutations in the PTH1R gene are associated with Jansen's metaphyseal chondrodysplasia and Blomstrand chondrodysplasia, two rare skeletal disorders. In addition, PTH1R has been implicated in the pathogenesis of osteoporosis and other disorders of bone metabolism.
See also
- Parathyroid hormone
- Parathyroid hormone-related protein
- G protein-coupled receptor
- Jansen's metaphyseal chondrodysplasia
- Blomstrand chondrodysplasia
References
External links
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Contributors: Prab R. Tumpati, MD
