Entrez gene ID | | 846 |
Official gene symbol | | CASR |
Full name | | calcium-sensing receptor |
Aliases | | ,CAR,EIG8,FHH,FIH,GPRC2A,HHC,HHC1,MGC138441,NSHPT,PCAR1, |
Gene summary | | 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] |
Location | | Chromosome: 3 Locus: 3q13 |
Gene position | | 121903181 - 122005344 Map Viewer |
Gene orientation | | plus |
Gene size | | 102164 bp |
Gene sequence |
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OMIM ID | | 601199 |
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