CASR [5C10, ADD]

The calcium-sensing receptor (CaSR) is a plasma membrane G protein-coupled receptor that is expressed in the parathyroid hormone (PTH)-producing chief cells of the parathyroid gland, and the cells lining the kidney tubule. It senses small changes in circulating calcium concentration. The encoded protein couples this information to intracellular signaling pathways that modify PTH secretion or renal cation handling. It plays an essential role in maintaining mineral ion homeostasis. Mutations in this gene cause familial hypocalciuric hypercalcemia, neonatal severe primary hyperparathyroidism and autosomal dominant hypocalcemia.