PTH1R
Description
The PTH1R gene, also known as the parathyroid hormone receptor 1 gene, encodes a protein that plays a crucial role in calcium homeostasis. This receptor binds to parathyroid hormone (PTH), a hormone secreted by the parathyroid glands. When PTH binds to PTH1R, it triggers a signaling cascade that ultimately increases calcium levels in the blood. This process is essential for maintaining bone health, regulating muscle function, and ensuring proper nerve transmission.
Associated Diseases
Did you know?
Mutations in the PTH1R gene can lead to a variety of disorders, including hypoparathyroidism, a condition characterized by low calcium levels in the blood.
