The PTHR1 gene encodes a receptor for both parathyroid hormone (MIM.168450) and parathyroid hormone-related protein (MIM.168470).
Pathology
germline mutations in
- multiple enchondromatosis (Ollier disease)
- Maffucci disease
- Jansen metaphyseal chondrodysplasia (Murk Jansen type) (MIM.156400)
- Blomstrand chondrodysplasia (MIM.215045)