PTH2R
The PTH2R Gene: Unraveling Its Role in Health and Disease
Description
The parathyroid hormone 2 receptor (PTH2R) gene, located on chromosome 17q24, encodes a G protein-coupled receptor that plays a crucial role in maintaining calcium homeostasis. When activated by its ligand, parathyroid hormone-related protein (PTHrP), PTH2R elicits a range of biological responses, primarily through the activation of the cAMP pathway.
Associated Diseases
Mutations in the PTH2R gene have been linked to various diseases, including:
- Familial hypocalciuric hypercalcemia: This rare genetic condition is characterized by elevated serum calcium levels due to decreased PTH2R activity.
- Neonatal severe hyperparathyroidism: This life-threatening condition in newborns results from inactivating mutations in PTH2R, leading to uncontrolled parathyroid hormone production.
- PTH2R-related osteogenesis imperfecta: This rare form of brittle bone disease is caused by mutations in PTH2R that impair bone mineralization.
Did you Know ?
According to a study published in the Journal of Bone and Mineral Research, mutations in the PTH2R gene are found in approximately 1% of patients with familial hypocalciuric hypercalcemia.
