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.


Disclaimer: The information provided here is not exhaustive by any means. Always consult your doctor or other qualified healthcare provider with any questions you may have regarding a medical condition, procedure, or treatment, whether it is a prescription medication, over-the-counter drug, vitamin, supplement, or herbal alternative.