PTGDR
The PTGDR Gene: A Gatekeeper of Calcium Metabolism
Description:
The PTGDR gene, located on chromosome 12, encodes the parathyroid gland receptor (PTHR), a critical player in calcium homeostasis and bone metabolism. PTHR is expressed in parathyroid cells, kidneys, bones, and other tissues. It binds to parathyroid hormone (PTH), a hormone that regulates blood calcium levels.
Associated Diseases:
Mutations in the PTGDR gene can lead to several diseases, including:
- Familial hypocalciuric hypercalcemia (FHH): An autosomal dominant disorder characterized by high blood calcium levels (hypercalcemia) and low urinary calcium loss (hypocalciuria).
- Neonatal severe hyperparathyroidism (NSHPT): A rare condition where infants develop severe hypercalcemia and excessive PTH secretion in the first few months of life, often requiring surgical removal of the parathyroid glands.
- Autosomal dominant hypoparathyroidism: A rare disorder characterized by low blood calcium levels (hypocalcemia) due to impaired PTH secretion.
Did you Know ?
Approximately 1 in 10,000 people worldwide are affected by FHH, highlighting the significant impact of PTGDR mutations.
