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CASR, a Calcium-Sensing Receptor, functions as a sensor in parathyroid and kidney to determine extracellular calcium concentration and to maintain calcium homeostasis. This receptor regulates both secretion of parathyroid hormone and excretion of urinary calcium. Mutations that inactivate CASR cause familial hypocalciuric hypercalcemia, which is also correlated with hyperparathyroidism. On the other hand, mutations that activate CASR cause autosomal dominant hypocalcemia. Hjalm et al. (2001) and Awata et al. (2001) have identified the binding of filamin-1 to the C-terminal tail of CASR, which may contribute to its localization in caveolae, link it to the actin-based cytoskeleton, and participate in CASR-mediated activation of MAPK. Multiple isoforms for CASR are produced by alternative splicing.
Gene Name: | calcium-sensing receptor |
Family/Subfamily: | GPCR , Calcium-sensing |
Synonyms: | CASR, Ca sensing receptor, Ca2+ sensing receptor, Calcium-sensing receptor, FIH, EIG8, GPRC2A, HHC, HHC1, Hypocalciuric hypercalcemia 1, PCAR1, NSHPT, CAR, FHH |
Target Sequences: | NM_000388 NP_000379.2 P41180 |
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