Gene Symbol | CASR |
Entrez Gene ID | 846 |
Full Name | calcium sensing receptor |
Synonyms | CAR,EIG8,FHH,FIH,GPRC2A,HHC,HHC1,HYPOC1,NSHPT,PCAR1,hCasR |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | The protein encoded by this gene is a plasma membrane G protein-coupled receptor that senses small changes in circulating calcium concentration. The encoded protein couples this information to intracellular signaling pathways that modify parathyroid hormone secretion or renal cation handling, and thus this protein plays an essential role in maintaining mineral ion homeostasis. Mutations in this gene are a cause of familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia. [provided by RefSeq, Aug 2017]. |
Disorder MIM: | |
Disorder Html: | Hypocalciuric hypercalcemia, type I, 145980 (3); Hyperparathyroidism, neonatal, 239200 (3); Hypocalcemia, autosomal dominant, 601198 (3); Hypocalcemia, autosomal dominant, with Bartter syndrome, 601198 (3); {Epilepsy idiopathic generalized, susceptibility to, 8}, 612899 (3); Hypercalciuric hypercalcemia (3); {Calcium, serum level of} (3) |