Gene CaSR

Also known as

Calcium-sensing receptor, CASR, PCAR1, FIH, HHC1

Overview

CaSR (Calcium-Sensing Receptor) is a gene that encodes a G protein-coupled receptor responsible for maintaining calcium homeostasis in the body. The CaSR protein is primarily expressed in the parathyroid gland and kidney, where it detects extracellular calcium levels and regulates parathyroid hormone (PTH) secretion and renal calcium handling. When blood calcium levels rise, the CaSR is activated, leading to decreased PTH secretion, which in turn reduces calcium reabsorption in the kidneys and calcium release from bones. This negative feedback mechanism is critical for maintaining stable blood calcium levels, which are essential for nerve function, muscle contraction, blood clotting, and bone health. Mutations in CaSR can cause disorders of calcium metabolism, including familial hypocalciuric hypercalcemia (FHH) and neonatal severe hyperparathyroidism when the receptor is underactive, or autosomal dominant hypocalcemia when it is overactive. Variants in this gene may also influence vitamin D metabolism, bone mineral density, and the risk of kidney stones.

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