PTH1R
PTH1R (Parathyroid hormone 1 receptor) 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 related to the receptor for parathyroid hormone (PTH) and parathyroid hormone-related protein (PTHrP).
Function[edit | edit source]
The PTH1R receptor is found in high concentrations in bone and kidney cells, where it plays a crucial role in maintaining calcium homeostasis. It is activated by both PTH and PTHrP, which bind to the receptor and stimulate the production of cyclic AMP, a second messenger that triggers a variety of cellular responses.
Clinical significance[edit | edit source]
Mutations in the PTH1R gene can lead to diseases such as Jansen's metaphyseal chondrodysplasia and Eiken syndrome. These are rare genetic disorders characterized by skeletal abnormalities, including short stature and bone deformities.
See also[edit | edit source]
- Parathyroid hormone
- Parathyroid hormone-related protein
- G protein-coupled receptor
- Jansen's metaphyseal chondrodysplasia
- Eiken syndrome
References[edit | edit source]
External links[edit | edit source]
- PTH1R at the US National Library of Medicine Medical Subject Headings (MeSH)
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Contributors: Prab R. Tumpati, MD
