[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 = ] ]Pathology
Mutations that inactivate CASR cause familial hypocalciuric hypercalcemia (FHH),[cite journal | author = Pidasheva S, Canaff L, Simonds WF, Marx SJ, Hendy GN | title = Impaired cotranslational processing of the calcium-sensing receptor due to signal peptide missense mutations in familial hypocalciuric hypercalcemia | journal = Hum. Mol. Genet. | volume = 14 | issue = 12 | pages = 1679–90 | year = 2005 | pmid = 15879434 | doi = 10.1093/hmg/ddi176 | issn = ] whereas mutations that activate CASR are the cause of autosomal dominant hypocalcemia.][cite journal | author = Mancilla EE, De Luca F, Baron J | title = Activating mutations of the Ca2+-sensing receptor | journal = Mol. Genet. Metab. | volume = 64 | issue = 3 | pages = 198–204 | year = 1998 | pmid = 9719629 | doi = 10.1006/mgme.1998.2716 | issn = ] An alternatively spliced transcript variant encoding 1088 aa has been found for this gene, but its full-length nature has not been defined. [cite web | title = Entrez Gene: CASR calcium-sensing receptor (hypocalciuric hypercalcemia 1, severe neonatal hyperparathyroidism)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=846| accessdate = ] ]Therapeutic application
The drug cinacalcet is an allosteric modifier of the calcium-sensing receptor.[cite journal | author = Torres PU | title = Cinacalcet HCl: a novel treatment for secondary hyperparathyroidism caused by chronic kidney disease | journal = Journal of renal nutrition : the official journal of the Council on Renal Nutrition of the National Kidney Foundation | volume = 16 | issue = 3 | pages = 253–8 | year = 2006 | pmid = 16825031 | doi = 10.1053/j.jrn.2006.04.010 | issn = ] ]References
Further reading
PBB_Further_reading
citations =
*cite journal | author=Hendy GN, D'Souza-Li L, Yang B, "et al." |title=Mutations of the calcium-sensing receptor (CASR) in familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia. |journal=Hum. Mutat. |volume=16 |issue= 4 |pages= 281–96 |year= 2000 |pmid= 11013439 |doi= 10.1002/1098-1004(200010)16:4<281::AID-HUMU1>3.0.CO;2-A |doilabel=10.1002/1098-1004(200010)16:4281::AID-HUMU13.0.CO;2-A
*cite journal | author=Fukumoto S |title= [Calcium-sensing receptor in bone cells] |journal=Nippon Rinsho |volume=60 Suppl 3 |issue= |pages= 57–63 |year= 2002 |pmid= 11979955 |doi=
*cite journal | author=Tfelt-Hansen J, Schwarz P, Brown EM, Chattopadhyay N |title=The calcium-sensing receptor in human disease. |journal=Front. Biosci. |volume=8 |issue= |pages= s377–90 |year= 2004 |pmid= 12700051 |doi=
*cite journal | author=Hu J, Spiegel AM |title=Naturally occurring mutations of the extracellular Ca2+-sensing receptor: implications for its structure and function. |journal=Trends Endocrinol. Metab. |volume=14 |issue= 6 |pages= 282–8 |year= 2004 |pmid= 12890593 |doi=
*cite journal | author=Aida K, Koishi S, Inoue M, "et al." |title=Familial hypocalciuric hypercalcemia associated with mutation in the human Ca(2+)-sensing receptor gene. |journal=J. Clin. Endocrinol. Metab. |volume=80 |issue= 9 |pages= 2594–8 |year= 1995 |pmid= 7673400 |doi=
*cite journal | author=Aida K, Koishi S, Tawata M, Onaya T |title=Molecular cloning of a putative Ca(2+)-sensing receptor cDNA from human kidney. |journal=Biochem. Biophys. Res. Commun. |volume=214 |issue= 2 |pages= 524–9 |year= 1995 |pmid= 7677761 |doi= 10.1006/bbrc.1995.2318
*cite journal | author=Chou YH, Pollak MR, Brandi ML, "et al." |title=Mutations in the human Ca(2+)-sensing-receptor gene that cause familial hypocalciuric hypercalcemia. |journal=Am. J. Hum. Genet. |volume=56 |issue= 5 |pages= 1075–9 |year= 1995 |pmid= 7726161 |doi=
*cite journal | author=Garrett JE, Capuano IV, Hammerland LG, "et al." |title=Molecular cloning and functional expression of human parathyroid calcium receptor cDNAs. |journal=J. Biol. Chem. |volume=270 |issue= 21 |pages= 12919–25 |year= 1995 |pmid= 7759551 |doi=
*cite journal | author=Pollak MR, Brown EM, Estep HL, "et al." |title=Autosomal dominant hypocalcaemia caused by a Ca(2+)-sensing receptor gene mutation. |journal=Nat. Genet. |volume=8 |issue= 3 |pages= 303–7 |year= 1995 |pmid= 7874174 |doi= 10.1038/ng1194-303
*cite journal | author=Pollak MR, Brown EM, Chou YH, "et al." |title=Mutations in the human Ca(2+)-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. |journal=Cell |volume=75 |issue= 7 |pages= 1297–303 |year= 1994 |pmid= 7916660 |doi=
*cite journal | author=Janicic N, Soliman E, Pausova Z, "et al." |title=Mapping of the calcium-sensing receptor gene (CASR) to human chromosome 3q13.3-21 by fluorescence in situ hybridization, and localization to rat chromosome 11 and mouse chromosome 16. |journal=Mamm. Genome |volume=6 |issue= 11 |pages= 798–801 |year= 1996 |pmid= 8597637 |doi=
*cite journal | author=Bikle DD, Ratnam A, Mauro T, "et al." |title=Changes in calcium responsiveness and handling during keratinocyte differentiation. Potential role of the calcium receptor. |journal=J. Clin. Invest. |volume=97 |issue= 4 |pages= 1085–93 |year= 1996 |pmid= 8613532 |doi=
*cite journal | author=Pearce SH, Trump D, Wooding C, "et al." |title=Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism. |journal=J. Clin. Invest. |volume=96 |issue= 6 |pages= 2683–92 |year= 1996 |pmid= 8675635 |doi=
*cite journal | author=Bai M, Quinn S, Trivedi S, "et al." |title=Expression and characterization of inactivating and activating mutations in the human Ca2+o-sensing receptor. |journal=J. Biol. Chem. |volume=271 |issue= 32 |pages= 19537–45 |year= 1996 |pmid= 8702647 |doi=
*cite journal | author=Baron J, Winer KK, Yanovski JA, "et al." |title=Mutations in the Ca(2+)-sensing receptor gene cause autosomal dominant and sporadic hypoparathyroidism. |journal=Hum. Mol. Genet. |volume=5 |issue= 5 |pages= 601–6 |year= 1997 |pmid= 8733126 |doi=
*cite journal | author=Freichel M, Zink-Lorenz A, Holloschi A, "et al." |title=Expression of a calcium-sensing receptor in a human medullary thyroid carcinoma cell line and its contribution to calcitonin secretion. |journal=Endocrinology |volume=137 |issue= 9 |pages= 3842–8 |year= 1996 |pmid= 8756555 |doi=
*cite journal | author=Chattopadhyay N, Ye C, Singh DP, "et al." |title=Expression of extracellular calcium-sensing receptor by human lens epithelial cells. |journal=Biochem. Biophys. Res. Commun. |volume=233 |issue= 3 |pages= 801–5 |year= 1997 |pmid= 9168937 |doi= 10.1006/bbrc.1997.6553
*cite journal | author=Cole DE, Janicic N, Salisbury SR, Hendy GN |title=Neonatal severe hyperparathyroidism, secondary hyperparathyroidism, and familial hypocalciuric hypercalcemia: multiple different phenotypes associated with an inactivating Alu insertion mutation of the calcium-sensing receptor gene. |journal=Am. J. Med. Genet. |volume=71 |issue= 2 |pages= 202–10 |year= 1997 |pmid= 9217223 |doi=
*cite journal | author=Ward BK, Stuckey BG, Gutteridge DH, "et al." |title=A novel mutation (L174R) in the Ca2+-sensing receptor gene associated with familial hypocalciuric hypercalcemia. |journal=Hum. Mutat. |volume=10 |issue= 3 |pages= 233–5 |year= 1997 |pmid= 9298824 |doi= 10.1002/(SICI)1098-1004(1997)10:3<233::AID-HUMU9>3.0.CO;2-J |doilabel=10.1002/(SICI)1098-1004(1997)10:3233::AID-HUMU93.0.CO;2-J
*cite journal | author=Quinn SJ, Kifor O, Trivedi S, "et al." |title=Sodium and ionic strength sensing by the calcium receptor. |journal=J. Biol. Chem. |volume=273 |issue= 31 |pages= 19579–86 |year= 1998 |pmid= 9677383 |doi=
External links
* [http://www.iuphar-db.org/GPCR/ChapterMenuForward?chapterID=1322 IUPHAR GPCR Database - Calcium-sensing receptors]
*MeshName|Receptors,+Calcium-Sensing
*MeshName|CASR+protein
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