CASR
Description
The Casr gene, located on chromosome 3, encodes for the calcium-sensing receptor (CaSR). This G protein-coupled receptor plays a crucial role in maintaining calcium homeostasis in the body. It is expressed in various tissues, including the parathyroid glands, kidneys, and intestines. CaSR senses extracellular calcium levels and regulates the release of parathyroid hormone (PTH), which controls calcium levels in the blood. The gene is also involved in regulating other functions such as bone metabolism and renal excretion.
Associated Diseases
- Familial Hypocalciuric Hypercalcemia (FHH)
- Neonatal Severe Hyperparathyroidism (NSHPT)
- Hypoparathyroidism
- Autosomal Dominant Hypoparathyroidism
- Pseudohypoparathyroidism type 1A and 1B
Did you know?
Mutations in the Casr gene can lead to both hypercalcemia (high calcium levels) and hypocalcemia (low calcium levels) depending on the nature of the mutation.
