PTH
Description
The PTH gene, located on chromosome 11 in humans, encodes parathyroid hormone (PTH), a critical regulator of calcium homeostasis. PTH is a small peptide hormone secreted by the parathyroid glands, which are four tiny glands located near the thyroid gland in the neck. Its primary role is to increase blood calcium levels by stimulating the release of calcium from bones, enhancing calcium absorption in the intestines, and promoting calcium reabsorption in the kidneys. This intricate interplay ensures a delicate balance of calcium in the body, essential for numerous physiological processes, including bone health, muscle function, nerve conduction, and blood clotting.
Associated Diseases
- Hypoparathyroidism: A condition characterized by insufficient PTH production, leading to low blood calcium levels.
- Hyperparathyroidism: A condition characterized by excessive PTH production, leading to high blood calcium levels. This can lead to bone loss, kidney stones, and other health complications.
- Familial hypoparathyroidism: A genetic disorder caused by mutations in the PTH gene, resulting in PTH deficiency.
- Pseudohypoparathyroidism: A rare genetic disorder characterized by resistance to PTH action, despite normal or elevated PTH levels.
Did you know?
PTH levels fluctuate throughout the day, with higher levels in the morning and lower levels in the evening.
