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Gene Review

CACNA1S  -  calcium channel, voltage-dependent, L type...

Homo sapiens

Synonyms: CACH1, CACN1, CACNL1A3, CCHL1A3, Cav1.1, ...
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Disease relevance of CACNA1S


High impact information on CACNA1S


Chemical compound and disease context of CACNA1S


Biological context of CACNA1S

  • This study identifies a novel Arg528Gly mutation in the CACNA1S gene that causes HypoPP in a Chinese family, expands the spectrum of mutations causing HypoPP, and demonstrates a gender difference in the penetrance of the disease [11].
  • Linkage analysis showed that the causative mutation in the family is linked to the CACNA1S gene with a LOD score of 6 [11].
  • One of these locates to chromosome 1q, the site of a candidate gene, CACNL1A3, encoding the alpha-subunit of the dihydropyridine receptor [12].
  • RESULTS: Analysis of the RYR1, CACNA1S, and ATP2A1 microsatellites excluded a link between those markers and the RER trait [3].
  • In light of the reported genetic heterogeneity for the disorder and the recent introduction of DNA testing guidelines for the trait, we have assessed the role of the CACNA1S gene in MH susceptibility in UK patients [13].

Anatomical context of CACNA1S

  • In contrast, vacuoles were predominant in muscles from hypoPP patients carrying CACNL1A3 mutations [5].
  • Oligonucleotides based on this sequence were used in a polymerase chain reaction to amplify specifically the human gene in human-rodent somatic cell hybrids, allowing the assignment of CACNL1A3 to chromosome 1 [14].
  • METHODS: We used 2-dimensional gel electrophoresis/mass spectrometry to compare the cerebrospinal fluid proteome of patients with mutation-confirmed CACH/VWM with that of unaffected controls [15].
  • Only two of five cases of locally invasive tumor demonstrated seminal vesicles expression for MHS-5 [16].
  • Assay systems employing the MHS-5 monoclonal may be useful for identification of semen in sexual-assault casework [17].

Associations of CACNA1S with chemical compounds


Other interactions of CACNA1S


Analytical, diagnostic and therapeutic context of CACNA1S


  1. Sodium channel gene mutations in hypokalemic periodic paralysis: an uncommon cause in the UK. Davies, N.P., Eunson, L.H., Samuel, M., Hanna, M.G. Neurology (2001) [Pubmed]
  2. Identification of the Arg1086His mutation in the alpha subunit of the voltage-dependent calcium channel (CACNA1S) in a North American family with malignant hyperthermia. Stewart, S.L., Hogan, K., Rosenberg, H., Fletcher, J.E. Clin. Genet. (2001) [Pubmed]
  3. Exclusion of linkage of the RYR1, CACNA1S, and ATP2A1 genes to recurrent exertional rhabdomyolysis in Thoroughbreds. Dranchak, P.K., Valberg, S.J., Onan, G.W., Gallant, E.M., Binns, M.M., Swinburne, J.E., Mickelson, J.R. Am. J. Vet. Res. (2006) [Pubmed]
  4. Enhanced inactivation and pH sensitivity of Na(+) channel mutations causing hypokalaemic periodic paralysis type II. Kuzmenkin, A., Muncan, V., Jurkat-Rott, K., Hang, C., Lerche, H., Lehmann-Horn, F., Mitrovic, N. Brain (2002) [Pubmed]
  5. Hypokalaemic periodic paralysis type 2 caused by mutations at codon 672 in the muscle sodium channel gene SCN4A. Sternberg, D., Maisonobe, T., Jurkat-Rott, K., Nicole, S., Launay, E., Chauveau, D., Tabti, N., Lehmann-Horn, F., Hainque, B., Fontaine, B. Brain (2001) [Pubmed]
  6. Mapping of the hypokalaemic periodic paralysis (HypoPP) locus to chromosome 1q31-32 in three European families. Fontaine, B., Vale-Santos, J., Jurkat-Rott, K., Reboul, J., Plassart, E., Rime, C.S., Elbaz, A., Heine, R., Guimarães, J., Weissenbach, J. Nat. Genet. (1994) [Pubmed]
  7. Hypokalemic periodic paralysis and the dihydropyridine receptor (CACNL1A3): genotype/phenotype correlations for two predominant mutations and evidence for the absence of a founder effect in 16 caucasian families. Elbaz, A., Vale-Santos, J., Jurkat-Rott, K., Lapie, P., Ophoff, R.A., Bady, B., Links, T.P., Piussan, C., Vila, A., Monnier, N. Am. J. Hum. Genet. (1995) [Pubmed]
  8. A novel sodium channel mutation in a family with hypokalemic periodic paralysis. Bulman, D.E., Scoggan, K.A., van Oene, M.D., Nicolle, M.W., Hahn, A.F., Tollar, L.L., Ebers, G.C. Neurology (1999) [Pubmed]
  9. Acetazolamide opens the muscular KCa2+ channel: a novel mechanism of action that may explain the therapeutic effect of the drug in hypokalemic periodic paralysis. Tricarico, D., Barbieri, M., Camerino, D.C. Ann. Neurol. (2000) [Pubmed]
  10. Hypokalemic periodic paralysis mutations: confirmation of mutation and analysis of founder effect. Grosson, C.L., Esteban, J., McKenna-Yasek, D., Gusella, J.F., Brown, R.H. Neuromuscul. Disord. (1996) [Pubmed]
  11. Novel CACNA1S mutation causes autosomal dominant hypokalemic periodic paralysis in a Chinese family. Wang, Q., Liu, M., Xu, C., Tang, Z., Liao, Y., Du, R., Li, W., Wu, X., Wang, X., Liu, P., Zhang, X., Zhu, J., Ren, X., Ke, T., Wang, Q., Yang, J. J. Mol. Med. (2005) [Pubmed]
  12. A genome wide search for susceptibility loci in three European malignant hyperthermia pedigrees. Robinson, R.L., Monnier, N., Wolz, W., Jung, M., Reis, A., Nuernberg, G., Curran, J.L., Monsieurs, K., Stieglitz, P., Heytens, L., Fricker, R., van Broeckhoven, C., Deufel, T., Hopkins, P.M., Lunardi, J., Mueller, C.R. Hum. Mol. Genet. (1997) [Pubmed]
  13. No evidence of mutations in the CACNA1S gene in the UK malignant hyperthermia population. Brooks, C., Robinson, R.L., Halsall, P.J., Hopkins, P.M. British journal of anaesthesia. (2002) [Pubmed]
  14. Assignment of the human gene for the alpha 1 subunit of the skeletal muscle DHP-sensitive Ca2+ channel (CACNL1A3) to chromosome 1q31-q32. Gregg, R.G., Couch, F., Hogan, K., Powers, P.A. Genomics (1993) [Pubmed]
  15. Decreased asialotransferrin in cerebrospinal fluid of patients with childhood-onset ataxia and central nervous system hypomyelination/vanishing white matter disease. Vanderver, A., Schiffmann, R., Timmons, M., Kellersberger, K.A., Fabris, D., Hoffman, E.P., Maletkovic, J., Hathout, Y. Clin. Chem. (2005) [Pubmed]
  16. The detection of prostate specific antigen, MHS-5, and other markers in invasive prostate cancer and seminal vesicle. Grob, B.M., Haley, C., Schellhammer, P.F., Schlossberg, S.M., Wright, G.L. J. Urol. (1992) [Pubmed]
  17. Characterization of a monoclonal antibody to a conserved epitope on human seminal vesicle-specific peptides: a novel probe/marker system for semen identification. Herr, J.C., Summers, T.A., McGee, R.S., Sutherland, W.M., Sigman, M., Evans, R.J. Biol. Reprod. (1986) [Pubmed]
  18. Identification of new polymorphisms in the CACNA1S gene. Carsana, A., Fortunato, G., De Sarno, C., Brancadoro, V., Salvatore, F. Clin. Chem. Lab. Med. (2003) [Pubmed]
  19. Electron microscopic immunolocalization of seminal vesicle-specific antigen in human seminal vesicle. Herr, J.C., Spell, D.R., Conklin, D.J., Flickinger, C.J. Biol. Reprod. (1989) [Pubmed]
  20. Foamy cells with oligodendroglial phenotype in childhood ataxia with diffuse central nervous system hypomyelination syndrome. Wong, K., Armstrong, R.C., Gyure, K.A., Morrison, A.L., Rodriguez, D., Matalon, R., Johnson, A.B., Wollmann, R., Gilbert, E., Le, T.Q., Bradley, C.A., Crutchfield, K., Schiffmann, R. Acta Neuropathol. (2000) [Pubmed]
  21. Presence of two different genetic traits in malignant hyperthermia families: implication for genetic analysis, diagnosis, and incidence of malignant hyperthermia susceptibility. Monnier, N., Krivosic-Horber, R., Payen, J.F., Kozak-Ribbens, G., Nivoche, Y., Adnet, P., Reyford, H., Lunardi, J. Anesthesiology (2002) [Pubmed]
  22. Skeletal muscle dihydropyridine-sensitive calcium channel (CACNA1S) gene mutations in chinese patients with hypokalemic periodic paralysis. Lin, S.H., Hsu, Y.D., Cheng, N.L., Kao, M.C. Am. J. Med. Sci. (2005) [Pubmed]
  23. Clinical-molecular study of a family with essential tremor, late onset seizures and periodic paralysis. Domínguez-Morán, J.A., Barón, M., de Blas, G., Orensanz, L.M., Jiménez-Escrig, A. Seizure : the journal of the British Epilepsy Association. (2000) [Pubmed]
  24. Mapping CACNA1S to chromosome 10 in swine using radiation hybrid mapping. Fang, X.M., Chu, X.H., Zhao, X.F., Guo, X.L., Xu, N.Y. Anim. Genet. (2005) [Pubmed]
  25. Refined localization of the alpha 1-subunit of the skeletal muscle L-type voltage-dependent calcium channel (CACNL1A3) to human chromosome 1q32 by in situ hybridization. Iles, D.E., Segers, B., Olde Weghuis, D., Suijkerbuijk, R., Mikala, G., Schwartz, A., Wieringa, B. Genomics (1994) [Pubmed]
  26. The use of a seminal vesicle specific protein (MHS-5 antigen) for diagnosis of agenesis of vas deferens and seminal vesicles in azoospermic men. Calderon, I., Barak, M., Abramovici, H., Gruener, N., Yavez, H., Paz, G., Homonnai, Z.T. J. Androl. (1994) [Pubmed]
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