Parathyroid hormone 2 receptor
Parathyroid Hormone 2 Receptor[edit | edit source]
The Parathyroid Hormone 2 Receptor (PTH2R) is a protein that in humans is encoded by the PTH2R gene. This receptor is primarily associated with the endocrine system and plays a significant role in calcium homeostasis and bone metabolism.
Structure[edit | edit source]
The PTH2R is a member of the G protein-coupled receptor family. It is a large protein with seven transmembrane domains, typical of this family of receptors. The receptor is activated by binding of the parathyroid hormone (PTH) or the parathyroid hormone-related protein (PTHrP).
Function[edit | edit source]
The primary function of the PTH2R is to regulate calcium levels within the body. It does this by binding to PTH, which is released by the parathyroid glands in response to low blood calcium levels. Once activated, the receptor stimulates the release of calcium from the bones into the bloodstream, helping to maintain a constant level of calcium in the blood.
Clinical Significance[edit | edit source]
Mutations in the PTH2R gene can lead to a variety of medical conditions. For example, hypercalcemia (excess calcium in the blood) can occur if the receptor is overly active, while hypocalcemia (low blood calcium) can result if the receptor is underactive. Additionally, mutations in this gene have been associated with Jansen's metaphyseal chondrodysplasia, a rare genetic disorder characterized by short stature and skeletal abnormalities.
See Also[edit | edit source]
References[edit | edit source]
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