Extracellular calcium-sensing receptor

NameExtracellular calcium-sensing receptor
Synonyms
  • CaSR
  • GPRC2A
  • Parathyroid cell calcium-sensing receptor 1
  • PCAR1
Gene NameCASR
OrganismHuman
Amino acid sequence
>lcl|BSEQ0001016|Extracellular calcium-sensing receptor
MAFYSCCWVLLALTWHTSAYGPDQRAQKKGDIILGGLFPIHFGVAAKDQDLKSRPESVEC
IRYNFRGFRWLQAMIFAIEEINSSPALLPNLTLGYRIFDTCNTVSKALEATLSFVAQNKI
DSLNLDEFCNCSEHIPSTIAVVGATGSGVSTAVANLLGLFYIPQVSYASSSRLLSNKNQF
KSFLRTIPNDEHQATAMADIIEYFRWNWVGTIAADDDYGRPGIEKFREEAEERDICIDFS
ELISQYSDEEEIQHVVEVIQNSTAKVIVVFSSGPDLEPLIKEIVRRNITGKIWLASEAWA
SSSLIAMPQYFHVVGGTIGFALKAGQIPGFREFLKKVHPRKSVHNGFAKEFWEETFNCHL
QEGAKGPLPVDTFLRGHEESGDRFSNSSTAFRPLCTGDENISSVETPYIDYTHLRISYNV
YLAVYSIAHALQDIYTCLPGRGLFTNGSCADIKKVEAWQVLKHLRHLNFTNNMGEQVTFD
ECGDLVGNYSIINWHLSPEDGSIVFKEVGYYNVYAKKGERLFINEEKILWSGFSREVPFS
NCSRDCLAGTRKGIIEGEPTCCFECVECPDGEYSDETDASACNKCPDDFWSNENHTSCIA
KEIEFLSWTEPFGIALTLFAVLGIFLTAFVLGVFIKFRNTPIVKATNRELSYLLLFSLLC
CFSSSLFFIGEPQDWTCRLRQPAFGISFVLCISCILVKTNRVLLVFEAKIPTSFHRKWWG
LNLQFLLVFLCTFMQIVICVIWLYTAPPSSYRNQELEDEIIFITCHEGSLMALGFLIGYT
CLLAAICFFFAFKSRKLPENFNEAKFITFSMLIFFIVWISFIPAYASTYGKFVSAVEVIA
ILAASFGLLACIFFNKIYIILFKPSRNTIEEVRCSTAAHAFKVAARATLRRSNVSRKRSS
SLGGSTGSTPSSSISSKSNSEDPFPQPERQKQQQPLALTQQEQQQQPLTLPQQQRSQQQP
RCKQKVIFGSGTVTFSLSFDEPQKNAMAHRNSTHQNSLEAQKSSDTLTRHQPLLPLQCGE
TDLDLTVQETGLQGPVGGDQRPEVEDPEELSPALVVSSSQSFVISGGGSTVTENVVNS
Number of residues1078
Molecular Weight120672.385
Theoretical pI5.82
GO Classification
Functions
  • phosphatidylinositol phospholipase C activity
  • G-protein coupled receptor activity
Processes
  • G-protein coupled receptor signaling pathway
  • cellular calcium ion homeostasis
  • anatomical structure morphogenesis
  • ossification
  • calcium ion import
  • detection of calcium ion
  • chemosensory behavior
Components
  • plasma membrane
  • integral component of plasma membrane
General FunctionPhosphatidylinositol phospholipase c activity
Specific FunctionSenses changes in the extracellular concentration of calcium ions. The activity of this receptor is mediated by a G-protein that activates a phosphatidylinositol-calcium second messenger system.
Pfam Domain Function
Transmembrane Regions613-635 650-670 682-700 725-745 770-792 806-828 837-862
GenBank Protein ID599820
UniProtKB IDP41180
UniProtKB Entry NameCASR_HUMAN
Cellular LocationCell membrane
Gene sequence
>lcl|BSEQ0016113|Extracellular calcium-sensing receptor (CASR)
ATGGCATTTTATAGCTGCTGCTGGGTCCTCTTGGCACTCACCTGGCACACCTCTGCCTAC
GGGCCAGACCAGCGAGCCCAAAAGAAGGGGGACATTATCCTTGGGGGGCTCTTTCCTATT
CATTTTGGAGTAGCAGCTAAAGATCAAGATCTCAAATCAAGGCCGGAGTCTGTGGAATGT
ATCAGGTATAATTTCCGTGGGTTTCGCTGGTTACAGGCTATGATATTTGCCATAGAGGAG
ATAAACAGCAGCCCAGCCCTTCTTCCCAACTTGACGCTGGGATACAGGATATTTGACACT
TGCAACACCGTTTCTAAGGCCTTGGAAGCCACCCTGAGTTTTGTTGCTCAAAACAAAATT
GATTCTTTGAACCTTGATGAGTTCTGCAACTGCTCAGAGCACATTCCCTCTACGATTGCT
GTGGTGGGAGCAACTGGCTCAGGCGTCTCCACGGCAGTGGCAAATCTGCTGGGGCTCTTC
TACATTCCCCAGGTCAGTTATGCCTCCTCCAGCAGACTCCTCAGCAACAAGAATCAATTC
AAGTCTTTCCTCCGAACCATCCCCAATGATGAGCACCAGGCCACTGCCATGGCAGACATC
ATCGAGTATTTCCGCTGGAACTGGGTGGGCACAATTGCAGCTGATGACGACTATGGGCGG
CCGGGGATTGAGAAATTCCGAGAGGAAGCTGAGGAAAGGGATATCTGCATCGACTTCAGT
GAACTCATCTCCCAGTACTCTGATGAGGAAGAGATCCAGCATGTGGTAGAGGTGATTCAA
AATTCCACGGCCAAAGTCATCGTGGTTTTCTCCAGTGGCCCAGATCTTGAGCCCCTCATC
AAGGAGATTGTCCGGCGCAATATCACGGGCAAGATCTGGCTGGCCAGCGAGGCCTGGGCC
AGCTCCTCCCTGATCGCCATGCCTCAGTACTTCCACGTGGTTGGCGGCACCATTGGATTC
GCTCTGAAGGCTGGGCAGATCCCAGGCTTCCGGGAATTCCTGAAGAAGGTCCATCCCAGG
AAGTCTGTCCACAATGGTTTTGCCAAGGAGTTTTGGGAAGAAACATTTAACTGCCACCTC
CAAGAAGGTGCAAAAGGACCTTTACCTGTGGACACCTTTCTGAGAGGTCACGAAGAAAGT
GGCGACAGGTTTAGCAACAGCTCGACAGCCTTCCGACCCCTCTGTACAGGGGATGAGAAC
ATCAGCAGTGTCGAGACCCCTTACATAGATTACACGCATTTACGGATATCCTACAATGTG
TACTTAGCAGTCTACTCCATTGCCCACGCCTTGCAAGATATATATACCTGCTTACCTGGG
AGAGGGCTCTTCACCAATGGCTCCTGTGCAGACATCAAGAAAGTTGAGGCGTGGCAGGTC
CTGAAGCACCTACGGCATCTAAACTTTACAAACAATATGGGGGAGCAGGTGACCTTTGAT
GAGTGTGGTGACCTGGTGGGGAACTATTCCATCATCAACTGGCACCTCTCCCCAGAGGAT
GGCTCCATCGTGTTTAAGGAAGTCGGGTATTACAACGTCTATGCCAAGAAGGGAGAAAGA
CTCTTCATCAACGAGGAGAAAATCCTGTGGAGTGGGTTCTCCAGGGAGGTGCCCTTCTCC
AACTGCAGCCGAGACTGCCTGGCAGGGACCAGGAAAGGGATCATTGAGGGGGAGCCCACC
TGCTGCTTTGAGTGTGTGGAGTGTCCTGATGGGGAGTATAGTGATGAGACAGATGCCAGT
GCCTGTAACAAGTGCCCAGATGACTTCTGGTCCAATGAGAACCACACCTCCTGCATTGCC
AAGGAGATCGAGTTTCTGTCGTGGACGGAGCCCTTTGGGATCGCACTCACCCTCTTTGCC
GTGCTGGGCATTTTCCTGACAGCCTTTGTGCTGGGTGTGTTTATCAAGTTCCGCAACACA
CCCATTGTCAAGGCCACCAACCGAGAGCTCTCCTACCTCCTCCTCTTCTCCCTGCTCTGC
TGCTTCTCCAGCTCCCTGTTCTTCATCGGGGAGCCCCAGGACTGGACGTGCCGCCTGCGC
CAGCCGGCCTTTGGCATCAGCTTCGTGCTCTGCATCTCATGCATCCTGGTGAAAACCAAC
CGTGTCCTCCTGGTGTTTGAGGCCAAGATCCCCACCAGCTTCCACCGCAAGTGGTGGGGG
CTCAACCTGCAGTTCCTGCTGGTTTTCCTCTGCACCTTCATGCAGATTGTCATCTGTGTG
ATCTGGCTCTACACCGCGCCCCCCTCAAGCTACCGCAACCAGGAGCTGGAGGATGAGATC
ATCTTCATCACGTGCCACGAGGGCTCCCTCATGGCCCTGGGCTTCCTGATCGGCTACACC
TGCCTGCTGGCTGCCATCTGCTTCTTCTTTGCCTTCAAGTCCCGGAAGCTGCCGGAGAAC
TTCAATGAAGCCAAGTTCATCACCTTCAGCATGCTCATCTTCTTCATCGTCTGGATCTCC
TTCATTCCAGCCTATGCCAGCACCTATGGCAAGTTTGTCTCTGCCGTAGAGGTGATTGCC
ATCCTGGCAGCCAGCTTTGGCTTGCTGGCGTGCATCTTCTTCAACAAGATCTACATCATT
CTCTTCAAGCCATCCCGCAACACCATCGAGGAGGTGCGTTGCAGCACCGCAGCTCACGCT
TTCAAGGTGGCTGCCCGGGCCACGCTGCGCCGCAGCAACGTCTCCCGCAAGCGGTCCAGC
AGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGC
GAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAG
CAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCC
AGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGAT
GAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCC
CAGAAAAGCAGCGATACGCTGACCCGACACCAGCCATTACTCCCGCTGCAGTGCGGGGAA
ACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAG
CGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAG
AGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAAAACGTAGTGAATTCATAA
GenBank Gene IDX81086
GeneCard IDNot Available
GenAtlas IDCASR
HGNC IDHGNC:1514
Chromosome Location3
Locus3q13
References
  1. Garrett JE, Capuano IV, Hammerland LG, Hung BC, Brown EM, Hebert SC, Nemeth EF, Fuller F: Molecular cloning and functional expression of human parathyroid calcium receptor cDNAs. J Biol Chem. 1995 May 26;270(21):12919-25. 7759551
  2. Aida K, Koishi S, Tawata M, Onaya T: Molecular cloning of a putative Ca(2+)-sensing receptor cDNA from human kidney. Biochem Biophys Res Commun. 1995 Sep 14;214(2):524-9. 7677761
  3. Freichel M, Zink-Lorenz A, Holloschi A, Hafner M, Flockerzi V, Raue F: Expression of a calcium-sensing receptor in a human medullary thyroid carcinoma cell line and its contribution to calcitonin secretion. Endocrinology. 1996 Sep;137(9):3842-8. 8756555
  4. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. 15489334
  5. Aida K, Koishi S, Inoue M, Nakazato M, Tawata M, Onaya T: Familial hypocalciuric hypercalcemia associated with mutation in the human Ca(2+)-sensing receptor gene. J Clin Endocrinol Metab. 1995 Sep;80(9):2594-8. 7673400
  6. Bikle DD, Ratnam A, Mauro T, Harris J, Pillai S: Changes in calcium responsiveness and handling during keratinocyte differentiation. Potential role of the calcium receptor. J Clin Invest. 1996 Feb 15;97(4):1085-93. 8613532
  7. Huang Y, Niwa J, Sobue G, Breitwieser GE: Calcium-sensing receptor ubiquitination and degradation mediated by the E3 ubiquitin ligase dorfin. J Biol Chem. 2006 Apr 28;281(17):11610-7. Epub 2006 Mar 2. 16513638
  8. Zhuang X, Adipietro KA, Datta S, Northup JK, Ray K: Rab1 small GTP-binding protein regulates cell surface trafficking of the human calcium-sensing receptor. Endocrinology. 2010 Nov;151(11):5114-23. doi: 10.1210/en.2010-0422. Epub 2010 Sep 22. 20861236
  9. Pollak MR, Brown EM, Chou YH, Hebert SC, Marx SJ, Steinmann B, Levi T, Seidman CE, Seidman JG: Mutations in the human Ca(2+)-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Cell. 1993 Dec 31;75(7):1297-303. 7916660
  10. Pollak MR, Brown EM, Estep HL, McLaine PN, Kifor O, Park J, Hebert SC, Seidman CE, Seidman JG: Autosomal dominant hypocalcaemia caused by a Ca(2+)-sensing receptor gene mutation. Nat Genet. 1994 Nov;8(3):303-7. 7874174
  11. Chou YH, Pollak MR, Brandi ML, Toss G, Arnqvist H, Atkinson AB, Papapoulos SE, Marx S, Brown EM, Seidman JG, et al.: Mutations in the human Ca(2+)-sensing-receptor gene that cause familial hypocalciuric hypercalcemia. Am J Hum Genet. 1995 May;56(5):1075-9. 7726161
  12. Pearce SH, Trump D, Wooding C, Besser GM, Chew SL, Grant DB, Heath DA, Hughes IA, Paterson CR, Whyte MP, et al.: Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism. J Clin Invest. 1995 Dec;96(6):2683-92. 8675635
  13. Lovlie R, Eiken HG, Sorheim JI, Boman H: The Ca(2+)-sensing receptor gene (PCAR1) mutation T151M in isolated autosomal dominant hypoparathyroidism. Hum Genet. 1996 Aug;98(2):129-33. 8698326
  14. Baron J, Winer KK, Yanovski JA, Cunningham AW, Laue L, Zimmerman D, Cutler GB Jr: Mutations in the Ca(2+)-sensing receptor gene cause autosomal dominant and sporadic hypoparathyroidism. Hum Mol Genet. 1996 May;5(5):601-6. 8733126
  15. Pearce SH, Williamson C, Kifor O, Bai M, Coulthard MG, Davies M, Lewis-Barned N, McCredie D, Powell H, Kendall-Taylor P, Brown EM, Thakker RV: A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor. N Engl J Med. 1996 Oct 10;335(15):1115-22. 8813042
  16. Ward BK, Stuckey BG, Gutteridge DH, Laing NG, Pullan PT, Ratajczak T: A novel mutation (L174R) in the Ca2+-sensing receptor gene associated with familial hypocalciuric hypercalcemia. Hum Mutat. 1997;10(3):233-5. 9298824
  17. De Luca F, Ray K, Mancilla EE, Fan GF, Winer KK, Gore P, Spiegel AM, Baron J: Sporadic hypoparathyroidism caused by de Novo gain-of-function mutations of the Ca(2+)-sensing receptor. J Clin Endocrinol Metab. 1997 Aug;82(8):2710-5. 9253358
  18. Kobayashi M, Tanaka H, Tsuzuki K, Tsuyuki M, Igaki H, Ichinose Y, Aya K, Nishioka N, Seino Y: Two novel missense mutations in calcium-sensing receptor gene associated with neonatal severe hyperparathyroidism. J Clin Endocrinol Metab. 1997 Aug;82(8):2716-9. 9253359
  19. Watanabe T, Bai M, Lane CR, Matsumoto S, Minamitani K, Minagawa M, Niimi H, Brown EM, Yasuda T: Familial hypoparathyroidism: identification of a novel gain of function mutation in transmembrane domain 5 of the calcium-sensing receptor. J Clin Endocrinol Metab. 1998 Jul;83(7):2497-502. 9661634
  20. Chikatsu N, Fukumoto S, Suzawa M, Tanaka Y, Takeuchi Y, Takeda S, Tamura Y, Matsumoto T, Fujita T: An adult patient with severe hypercalcaemia and hypocalciuria due to a novel homozygous inactivating mutation of calcium-sensing receptor. Clin Endocrinol (Oxf). 1999 Apr;50(4):537-43. 10468915
  21. Okazaki R, Chikatsu N, Nakatsu M, Takeuchi Y, Ajima M, Miki J, Fujita T, Arai M, Totsuka Y, Tanaka K, Fukumoto S: A novel activating mutation in calcium-sensing receptor gene associated with a family of autosomal dominant hypocalcemia. J Clin Endocrinol Metab. 1999 Jan;84(1):363-6. 9920108
  22. Stock JL, Brown RS, Baron J, Coderre JA, Mancilla E, De Luca F, Ray K, Mericq MV: Autosomal dominant hypoparathyroidism associated with short stature and premature osteoarthritis. J Clin Endocrinol Metab. 1999 Sep;84(9):3036-40. 10487661
  23. Cole DE, Peltekova VD, Rubin LA, Hawker GA, Vieth R, Liew CC, Hwang DM, Evrovski J, Hendy GN: A986S polymorphism of the calcium-sensing receptor and circulating calcium concentrations. Lancet. 1999 Jan 9;353(9147):112-5. 10023897
  24. Carling T, Szabo E, Bai M, Ridefelt P, Westin G, Gustavsson P, Trivedi S, Hellman P, Brown EM, Dahl N, Rastad J: Familial hypercalcemia and hypercalciuria caused by a novel mutation in the cytoplasmic tail of the calcium receptor. J Clin Endocrinol Metab. 2000 May;85(5):2042-7. 10843194
  25. Nakayama T, Minato M, Nakagawa M, Soma M, Tobe H, Aoi N, Kosuge K, Sato M, Ozawa Y, Kanmatsuse K, Kokubun S: A novel mutation in Ca2+-sensing receptor gene in familial hypocalciuric hypercalcemia. Endocrine. 2001 Aug;15(3):277-82. 11762699
  26. Cole DE, Vieth R, Trang HM, Wong BY, Hendy GN, Rubin LA: Association between total serum calcium and the A986S polymorphism of the calcium-sensing receptor gene. Mol Genet Metab. 2001 Feb;72(2):168-74. 11161843
  27. Nagase T, Murakami T, Tsukada T, Kitamura R, Chikatsu N, Takeo H, Takata N, Yasuda H, Fukumoto S, Tanaka Y, Nagata N, Yamaguchi K, Akatsu T, Yamamoto M: A family of autosomal dominant hypocalcemia with a positive correlation between serum calcium and magnesium: identification of a novel gain of function mutation (Ser(820)Phe) in the calcium-sensing receptor. J Clin Endocrinol Metab. 2002 Jun;87(6):2681-7. 12050233
  28. Sato K, Hasegawa Y, Nakae J, Nanao K, Takahashi I, Tajima T, Shinohara N, Fujieda K: Hydrochlorothiazide effectively reduces urinary calcium excretion in two Japanese patients with gain-of-function mutations of the calcium-sensing receptor gene. J Clin Endocrinol Metab. 2002 Jul;87(7):3068-73. 12107202
  29. Watanabe S, Fukumoto S, Chang H, Takeuchi Y, Hasegawa Y, Okazaki R, Chikatsu N, Fujita T: Association between activating mutations of calcium-sensing receptor and Bartter's syndrome. Lancet. 2002 Aug 31;360(9334):692-4. 12241879
  30. Tan YM, Cardinal J, Franks AH, Mun HC, Lewis N, Harris LB, Prins JB, Conigrave AD: Autosomal dominant hypocalcemia: a novel activating mutation (E604K) in the cysteine-rich domain of the calcium-sensing receptor. J Clin Endocrinol Metab. 2003 Feb;88(2):605-10. 12574188
  31. Hendy GN, Minutti C, Canaff L, Pidasheva S, Yang B, Nouhi Z, Zimmerman D, Wei C, Cole DE: Recurrent familial hypocalcemia due to germline mosaicism for an activating mutation of the calcium-sensing receptor gene. J Clin Endocrinol Metab. 2003 Aug;88(8):3674-81. 12915654
  32. Scillitani A, Guarnieri V, De Geronimo S, Muscarella LA, Battista C, D'Agruma L, Bertoldo F, Florio C, Minisola S, Hendy GN, Cole DE: Blood ionized calcium is associated with clustered polymorphisms in the carboxyl-terminal tail of the calcium-sensing receptor. J Clin Endocrinol Metab. 2004 Nov;89(11):5634-8. 15531522
  33. Miyashiro K, Kunii I, Manna TD, de Menezes Filho HC, Damiani D, Setian N, Hauache OM: Severe hypercalcemia in a 9-year-old Brazilian girl due to a novel inactivating mutation of the calcium-sensing receptor. J Clin Endocrinol Metab. 2004 Dec;89(12):5936-41. 15579740
  34. Warner J, Epstein M, Sweet A, Singh D, Burgess J, Stranks S, Hill P, Perry-Keene D, Learoyd D, Robinson B, Birdsey P, Mackenzie E, Teh BT, Prins JB, Cardinal J: Genetic testing in familial isolated hyperparathyroidism: unexpected results and their implications. J Med Genet. 2004 Mar;41(3):155-60. 14985373
  35. Uckun-Kitapci A, Underwood LE, Zhang J, Moats-Staats B: A novel mutation (E767K) in the second extracellular loop of the calcium sensing receptor in a family with autosomal dominant hypocalcemia. Am J Med Genet A. 2005 Jan 15;132A(2):125-9. 15551332
  36. Pidasheva S, Canaff L, Simonds WF, Marx SJ, Hendy GN: Impaired cotranslational processing of the calcium-sensing receptor due to signal peptide missense mutations in familial hypocalciuric hypercalcemia. Hum Mol Genet. 2005 Jun 15;14(12):1679-90. Epub 2005 May 6. 15879434
  37. Wystrychowski A, Pidasheva S, Canaff L, Chudek J, Kokot F, Wiecek A, Hendy GN: Functional characterization of calcium-sensing receptor codon 227 mutations presenting as either familial (benign) hypocalciuric hypercalcemia or neonatal hyperparathyroidism. J Clin Endocrinol Metab. 2005 Feb;90(2):864-70. Epub 2004 Nov 30. 15572418
  38. Leech C, Lohse P, Stanojevic V, Lechner A, Goke B, Spitzweg C: Identification of a novel inactivating R465Q mutation of the calcium-sensing receptor. Biochem Biophys Res Commun. 2006 Apr 14;342(3):996-1002. 16598859
  39. Mittelman SD, Hendy GN, Fefferman RA, Canaff L, Mosesova I, Cole DE, Burkett L, Geffner ME: A hypocalcemic child with a novel activating mutation of the calcium-sensing receptor gene: successful treatment with recombinant human parathyroid hormone. J Clin Endocrinol Metab. 2006 Jul;91(7):2474-9. Epub 2006 Apr 11. 16608894
  40. Zajickova K, Vrbikova J, Canaff L, Pawelek PD, Goltzman D, Hendy GN: Identification and functional characterization of a novel mutation in the calcium-sensing receptor gene in familial hypocalciuric hypercalcemia: modulation of clinical severity by vitamin D status. J Clin Endocrinol Metab. 2007 Jul;92(7):2616-23. Epub 2007 May 1. 17473068
  41. Nissen PH, Christensen SE, Heickendorff L, Brixen K, Mosekilde L: Molecular genetic analysis of the calcium sensing receptor gene in patients clinically suspected to have familial hypocalciuric hypercalcemia: phenotypic variation and mutation spectrum in a Danish population. J Clin Endocrinol Metab. 2007 Nov;92(11):4373-9. Epub 2007 Aug 14. 17698911
  42. Kapoor A, Satishchandra P, Ratnapriya R, Reddy R, Kadandale J, Shankar SK, Anand A: An idiopathic epilepsy syndrome linked to 3q13.3-q21 and missense mutations in the extracellular calcium sensing receptor gene. Ann Neurol. 2008 Aug;64(2):158-67. doi: 10.1002/ana.21428. 18756473
  43. Hannan FM, Nesbit MA, Christie PT, Lissens W, Van der Schueren B, Bex M, Bouillon R, Thakker RV: A homozygous inactivating calcium-sensing receptor mutation, Pro339Thr, is associated with isolated primary hyperparathyroidism: correlation between location of mutations and severity of hypercalcaemia. Clin Endocrinol (Oxf). 2010 Dec;73(6):715-22. doi: 10.1111/j.1365-2265.2010.03870.x. 20846291
  44. Aparicio Lopez C, Anton-Martin P, Gil-Fournier B, Ramiro-Leon S, Perez-Nanclares G, Perez de Nanclares G, Martinez Menendez B, Castano L: Familial hypocalciuric hypercalcemia: new mutation in the CASR gene converting valine 697 to methionine. Eur J Pediatr. 2012 Jan;171(1):147-50. doi: 10.1007/s00431-011-1504-8. Epub 2011 Jun 4. 21643651