CALCRL
Description
The CALCRL gene, located on chromosome 7, encodes the calcium-sensing receptor (CaSR). This G protein-coupled receptor (GPCR) plays a crucial role in maintaining calcium homeostasis by sensing extracellular calcium levels and triggering signaling pathways that regulate calcium reabsorption in the kidneys, bone metabolism, and parathyroid hormone secretion. The CaSR is expressed in various tissues, including parathyroid glands, kidneys, bone, and the gastrointestinal tract, highlighting its diverse physiological roles. Mutations in the CALCRL gene can lead to various disorders related to calcium metabolism and bone health.
Associated Diseases
- Familial hypocalciuric hypercalcemia (FHH): A benign condition characterized by high blood calcium levels and low urinary calcium excretion.
- Hypoparathyroidism: A rare condition where the parathyroid glands do not produce enough parathyroid hormone, leading to low blood calcium levels.
- Neonatal severe hyperparathyroidism: A rare, severe form of hyperparathyroidism in newborns.
- Pseudohypoparathyroidism type 1A: A rare genetic disorder where the body does not respond properly to parathyroid hormone, leading to hypocalcemia.
- Osteoporosis: A condition characterized by weak and brittle bones, which can be exacerbated by mutations in the CALCRL gene.
- Kidney stones: Formation of stones in the kidneys can be influenced by calcium metabolism and may be linked to CALCRL gene variations.
Did you know?
The CaSR is not only a calcium sensor but also responds to other divalent cations like magnesium and strontium, highlighting its versatility in sensing extracellular environments.
