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Calcium-sensing receptor

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CASR
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesCASR, CAR, EIG8, FHH, FIH, GPRC2A, HHC, HHC1, HYPOC1, NSHPT, PCAR1, calcium sensing receptor, hCasR, Calcium-sensing receptor+CaSR
External IDsOMIM: 601199; MGI: 1351351; HomoloGene: 332; GeneCards: CASR; OMA:CASR - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000388
NM_001178065

NM_013803

RefSeq (protein)

NP_000379
NP_001171536

NP_038831

Location (UCSC)Chr 3: 122.18 – 122.29 MbChr 16: 36.31 – 36.38 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

The calcium-sensing receptor is a G-protein coupled receptor which senses extracellular levels of calcium ion. In the parathyroid gland, the calcium-sensing receptor controls calcium homeostasis by regulating the release of parathyroid hormone.[5]

Mutations that inactivate CASR cause familial hypocalciuric hypercalcemia, whereas mutations that activate CASR are the cause of autosomal dominant hypocalcemia. An altenatively spliced transcript variant encoding 1088 aa has been found for this gene, but its full-length nature has not been defined.[6]

The drug cinacalcet is an allosteric modifier of the calcium-sensing receptor.[7]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000036828Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000051980Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ D'Souza-Li L (2006). "The calcium-sensing receptor and related diseases". Arquivos brasileiros de endocrinologia e metabologia. 50 (4): 628–39. PMID 17117288.
  6. ^ "Entrez Gene: CASR calcium-sensing receptor (hypocalciuric hypercalcemia 1, severe neonatal hyperparathyroidism)".
  7. ^ Torres PU (2006). "Cinacalcet HCl: a novel treatment for secondary hyperparathyroidism caused by chronic kidney disease". Journal of renal nutrition : the official journal of the Council on Renal Nutrition of the National Kidney Foundation. 16 (3): 253–8. doi:10.1053/j.jrn.2006.04.010. PMID 16825031.

Further reading