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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,[6] whereas mutations that activate CASR are the cause of autosomal dominant hypocalcemia.[7] An alternatively spliced transcript variant encoding 1088 aa has been found for this gene, but its full-length nature has not been defined.[8]

The drug cinacalcet is an allosteric modifier of the calcium-sensing receptor.[9]

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. ^ Pidasheva S, Canaff L, Simonds WF, Marx SJ, Hendy GN (2005). "Impaired cotranslational processing of the calcium-sensing receptor due to signal peptide missense mutations in familial hypocalciuric hypercalcemia". Hum. Mol. Genet. 14 (12): 1679–90. doi:10.1093/hmg/ddi176. PMID 15879434.{{cite journal}}: CS1 maint: multiple names: authors list (link)
  7. ^ Mancilla EE, De Luca F, Baron J (1998). "Activating mutations of the Ca2+-sensing receptor". Mol. Genet. Metab. 64 (3): 198–204. doi:10.1006/mgme.1998.2716. PMID 9719629.{{cite journal}}: CS1 maint: multiple names: authors list (link)
  8. ^ "Entrez Gene: CASR calcium-sensing receptor (hypocalciuric hypercalcemia 1, severe neonatal hyperparathyroidism)".
  9. ^ 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