PTH2
The PTH2 Gene: A Comprehensive Overview
Description
The PTH2 gene, located on chromosome 11p15.5, provides instructions for producing a protein called parathyroid hormone-like hormone (PTHLH). This hormone plays a crucial role in regulating calcium and phosphorus levels in the body. It stimulates the release of calcium from bones into the bloodstream and promotes the absorption of calcium and phosphorus from the digestive tract.
Role in Calcium Homeostasis
PTHLH acts as a paracrine hormone, influencing nearby cells. It binds to receptors on osteoblasts (bone-forming cells) and osteoclasts (bone-resorbing cells), affecting their activity. By stimulating bone resorption and suppressing bone formation, PTHLH increases calcium release into the bloodstream.
Associated Diseases
Mutations in the PTH2 gene can lead to several diseases related to calcium and phosphorus metabolism:
- Hypoparathyroidism: A deficiency of parathyroid hormone, resulting in decreased calcium levels and increased phosphorus levels.
- Hypercalcemia: An excess of calcium in the blood, often caused by excessive secretion of PTHLH by a tumor.
- Fibrous Dysplasia of Bone: A skeletal disorder characterized by the formation of fibrous tissue within bones, leading to bone deformities and pain.
Did you Know ?
Approximately 1 in 10,000 people worldwide has fibrous dysplasia of bone, which is caused by mutations in the PTH2 gene.
