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casr

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Official Full Name
calcium-sensing receptor
Background
The protein encoded by this gene is a 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 and couples this information to intracellular signaling pathways that modify PTH secretion or renal cation handling, thus this protein plays an essential role in maintaining mineral ion homeostasis. Mutations in this gene cause familial hypocalciuric hypercalcemia, familial, isolated hypoparathyroidism, and neonatal severe primary hyperparathyroidism. [provided by RefSeq, Jul 2008]
Synonyms
CASR; calcium-sensing receptor; CAR; FHH; FIH; HHC; EIG8; HHC1; NSHPT; PCAR1; GPRC2A; HYPOC1; extracellular calcium-sensing receptor; parathyroid Ca(2+)-sensing receptor 1; parathyroid cell calcium-sensing receptor 1; HHC, HHC1, hypocalciuric hypercalcemia 1; severe neonatal hyperparathyroidism; parathyroid cell calcium-sensing receptor; MGC138441

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