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{{PBB|geneid=846}}
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{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = Calcium-sensing receptor (hypocalciuric hypercalcemia 1, severe neonatal hyperparathyroidism)
| HGNCid = 1514
| Symbol = CASR
| AltSymbols =; CAR; FHH; FIH; GPRC2A; HHC; HHC1; MGC138441; NSHPT; PCAR1
| OMIM = 601199
| ECnumber =
| Homologene = 332
| MGIid = 1351351
| GeneAtlas_image1 = PBB_GE_CASR_210577_at_tn.png
| GeneAtlas_image2 = PBB_GE_CASR_211384_s_at_tn.png
| Function = {{GNF_GO|id=GO:0004435 |text = phosphoinositide phospholipase C activity}} {{GNF_GO|id=GO:0004872 |text = receptor activity}} {{GNF_GO|id=GO:0008067 |text = metabotropic glutamate, GABA-B-like receptor activity}}
| Component = {{GNF_GO|id=GO:0005886 |text = plasma membrane}} {{GNF_GO|id=GO:0005887 |text = integral to plasma membrane}}
| Process = {{GNF_GO|id=GO:0001503 |text = ossification}} {{GNF_GO|id=GO:0005513 |text = detection of calcium ion}} {{GNF_GO|id=GO:0006874 |text = cellular calcium ion homeostasis}} {{GNF_GO|id=GO:0007165 |text = signal transduction}} {{GNF_GO|id=GO:0007186 |text = G-protein coupled receptor protein signaling pathway}} {{GNF_GO|id=GO:0007635 |text = chemosensory behavior}} {{GNF_GO|id=GO:0009653 |text = anatomical structure morphogenesis}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 846
| Hs_Ensembl = ENSG00000036828
| Hs_RefseqProtein = NP_000379
| Hs_RefseqmRNA = NM_000388
| Hs_GenLoc_db =
| Hs_GenLoc_chr = 3
| Hs_GenLoc_start = 123385871
| Hs_GenLoc_end = 123488032
| Hs_Uniprot = P41180
| Mm_EntrezGene = 12374
| Mm_Ensembl = ENSMUSG00000051980
| Mm_RefseqmRNA = NM_013803
| Mm_RefseqProtein = NP_038831
| Mm_GenLoc_db =
| Mm_GenLoc_chr = 16
| Mm_GenLoc_start = 36412933
| Mm_GenLoc_end = 36481373
| Mm_Uniprot = O88982
}}
}}


The '''calcium-sensing receptor''' (CaSR) 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]].<ref name="pmid17117288">{{cite journal | author = D'Souza-Li L | title = The calcium-sensing receptor and related diseases | journal = Arquivos brasileiros de endocrinologia e metabologia | volume = 50 | issue = 4 | pages = 628–39 | year = 2006 | pmid = 17117288 | doi = 10.1590/S0004-27302006000400008 | issn = }}</ref>
The '''calcium-sensing receptor''' (CaSR) 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]].<ref name="pmid17117288">{{cite journal | author = D'Souza-Li L | title = The calcium-sensing receptor and related diseases | journal = Arquivos brasileiros de endocrinologia e metabologia | volume = 50 | issue = 4 | pages = 628–39 | year = 2006 | pmid = 17117288 | doi = 10.1590/S0004-27302006000400008 | issn = }}</ref>
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{{G protein-coupled receptors}}
{{G protein-coupled receptors}}
[[Category:G protein coupled receptors]]
[[Category:G protein coupled receptors]]

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Revision as of 05:42, 8 July 2008

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The calcium-sensing receptor (CaSR) 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.[1]

Pathology

Mutations that inactivate CASR cause familial hypocalciuric hypercalcemia (FHH),[2] whereas mutations that activate CASR are the cause of autosomal dominant hypocalcemia.[3] An alternatively spliced transcript variant encoding 1088 aa has been found for this gene, but its full-length nature has not been defined.[4]

Therapeutic application

The drug cinacalcet is an allosteric modifier of the calcium-sensing receptor.[5]

References

  1. ^ D'Souza-Li L (2006). "The calcium-sensing receptor and related diseases". Arquivos brasileiros de endocrinologia e metabologia. 50 (4): 628–39. doi:10.1590/S0004-27302006000400008. PMID 17117288.
  2. ^ 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)
  3. ^ 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)
  4. ^ "Entrez Gene: CASR calcium-sensing receptor (hypocalciuric hypercalcemia 1, severe neonatal hyperparathyroidism)".
  5. ^ 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

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