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Identification
HMDB Protein ID HMDBP07498
Secondary Accession Numbers
  • 13206
Name Voltage-dependent L-type calcium channel subunit alpha-1S
Synonyms
  1. Calcium channel, L type, alpha-1 polypeptide, isoform 3, skeletal muscle
  2. Voltage-gated calcium channel subunit alpha Cav1.1
Gene Name CACNA1S
Protein Type Unknown
Biological Properties
General Function Involved in ion channel activity
Specific Function Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1S gives rise to L-type calcium currents. Long-lasting (L-type) calcium channels belong to the 'high-voltage activated' (HVA) group. They are blocked by dihydropyridines (DHP), phenylalkylamines, benzothiazepines, and by omega-agatoxin-IIIA (omega-Aga-IIIA). They are however insensitive to omega-conotoxin- GVIA (omega-CTx-GVIA) and omega-agatoxin-IVA (omega-Aga-IVA). Calcium channels containing the alpha-1S subunit play an important role in excitation-contraction coupling in skeletal muscle
Pathways Not Available
Reactions Not Available
GO Classification
Component
membrane
cell part
membrane part
ion channel complex
cation channel complex
macromolecular complex
intrinsic to membrane
protein complex
integral to membrane
calcium channel complex
voltage-gated calcium channel complex
Function
transmembrane transporter activity
substrate-specific transmembrane transporter activity
ion transmembrane transporter activity
transporter activity
ion channel activity
cation channel activity
calcium channel activity
voltage-gated calcium channel activity
Process
di-, tri-valent inorganic cation transport
divalent metal ion transport
calcium ion transport
establishment of localization
transport
transmembrane transport
ion transport
cation transport
Cellular Location
  1. Membrane
  2. Multi-pass membrane protein
Gene Properties
Chromosome Location Chromosome:1
Locus 1q32
SNPs CACNA1S
Gene Sequence
>5622 bp
ATGGAGCCATCCTCACCCCAGGATGAAGGCCTGAGGAAGAAACAGCCCAAGAAGCCAGTT
CCTGAGATTCTGCCAAGGCCACCCCGGGCCTTGTTCTGCCTGACCCTGGAGAACCCCCTG
AGGAAGGCCTGCATCAGCATTGTAGAATGGAAGCCCTTCGAGACGATCATCTTGCTCACC
ATCTTTGCCAATTGTGTGGCCCTGGCCGTGTACCTGCCCATGCCGGAAGATGACAACAAC
TCTCTGAACCTCGGCCTGGAGAAGCTGGAGTATTTCTTCCTCATTGTCTTCTCGATTGAA
GCCGCCATGAAGATCATTGCCTACGGCTTCTTATTCCACCAGGACGCTTACCTGCGCAGT
GGCTGGAATGTGCTGGACTTCACCATTGTCTTCCTGGGGGTCTTCACCGTGATTCTGGAA
CAGGTTAACGTCATCCAAAGCCACACAGCCCCAATGAGCAGCAAAGGAGCCGGCTTGGAT
GTCAAGGCCCTCAGAGCCTTCCGAGTGCTCAGACCCCTCCGGCTGGTGTCGGGGGTGCCT
AGCCTGCAGGTGGTCCTGAACTCCATCTTCAAGGCCATGCTCCCCCTCTTTCACATCGCC
CTGCTGGTCCTCTTTATGGTCATCATCTATGCCATCATCGGGCTGGAGCTCTTCAAGGGC
AAGATGCACAAGACCTGCTACTTCATTGGTACAGATATCGTGGCCACGGTGGAGAATGAA
GAGCCATCGCCCTGCGCCAGGACGGGCTCAGGGCGCCGGTGCACCATCAATGGCAGTGAG
TGCCGGGGCGGCTGGCCAGGGCCCAACCATGGCATCACCCACTTCGACAACTTCGGCTTC
TCCATGCTCACCGTGTACCAGTGCATTACCATGGAGGGATGGACTGACGTCCTTTACTGG
GTCAATGATGCCATCGGGAATGAGTGGCCCTGGATCTATTTTGTCACCCTCATTTTGCTG
GGATCCTTCTTCATCCTCAACCTGGTGCTGGGTGTCCTGAGTGGGGAATTCACCAAGGAG
CGGGAGAAGGCCAAGTCCAGGGGAACCTTCCAGAAGCTCCGGGAGAAGCAGCAACTAGAT
GAGGACCTTCGGGGCTACATGAGCTGGATCACGCAGGGCGAGGTCATGGATGTTGAGGAC
TTCAGAGAAGGAAAACTGTCTTTGGATGAAGGTGGCTCTGACACAGAGAGCCTGTATGAA
ATTGCAGGCTTGAACAAAATCATCCAGTTCATCCGACATTGGAGGCAGTGGAACCGCATC
TTTCGCTGGAAGTGCCATGACATCGTGAAGTCCAAGGTCTTCTATTGGCTGGTGATTCTC
ATCGTTGCCCTCAACACCCTGTCTATCGCCTCAGAGCACCACAACCAGCCTCTCTGGCTG
ACCCGTTTGCAAGACATTGCCAACCGGGTGCTGCTGTCCCTCTTCACCACTGAGATGCTG
ATGAAGATGTACGGGCTGGGCCTGCGCCAGTACTTCATGTCTATCTTCAACCGCTTCGAC
TGCTTCGTGGTGTGTAGCGGTATCCTGGAGATCCTGCTGGTGGAGTCGGGTGCCATGACA
CCCCTGGGCATCTCCGTGCTCCGCTGCATCCGCCTCCTGAGGATCTTCAAGATCACCAAA
TATTGGACGTCGCTGAGCAACCTGGTGGCATCCCTGCTCAACTCCATCCGCTCCATCGCC
TCCCTGCTGCTGCTGCTCTTCCTCTTCATCGTCATCTTCGCCCTCCTGGGCATGCAGCTC
TTTGGGGGGAGGTATGACTTTGAAGACACAGAAGTACGGCGCAGCAACTTTGACAACTTT
CCCCAAGCCCTCATCAGCGTCTTCCAGGTACTGACAGGGGAAGACTGGACCTCAATGATG
TACAATGGGATCATGGCCTACGGCGGGCCGTCCTACCCTGGCATGCTTGTGTGCATTTAC
TTCATCATCCTTTTCGTCTGTGGCAACTACATCCTGCTCAATGTCTTCCTGGCCATTGCC
GTGGACAACCTGGCCGAGGCGGAGAGCCTGACTTCTGCCCAGAAGGCCAAGGCTGAGGAG
AAAAAACGCAGGAAGATGTCCAAGGGTCTCCCAGACAAGTCAGAAGAGGAGAAGTCAACG
ATGGCCAAGAAGCTGGAGCAGAAACCCAAGGGTGAGGGCATCCCCACCACTGCCAAGCTG
AAAATCGATGAGTTTGAATCTAATGTCAATGAGGTGAAGGATCCCTACCCCTCAGCCGAC
TTCCCAGGGGATGACGAGGAAGATGAGCCTGAGATCCCGCTGAGCCCCCGACCACGTCCC
CTGGCTGAGCTGCAGCTGAAAGAGAAGGCCGTGCCCATTCCAGAAGCCAGCTCCTTCTTC
ATCTTCAGCCCCACCAATAAGATCCGTGTCCTGTGTCACCGCATCGTCAATGCCACCTGG
TTTACCAACTTCATCCTGCTCTTCATCCTGCTCAGCAGCGCTGCACTGGCTGCGGAAGAC
CCCATCCGGGCTGATTCCATGAGAAATCAGATCCTTAAACACTTTGACATCGGGTTCACC
TCTGTCTTCACTGTGGAGATTGTCCTCAAGATGACGACCTACGGAGCCTTCCTGCACAAG
GGTTCCTTCTGCCGCAATTACTTCAACATGCTGGACCTGCTGGTGGTGGCCGTGTCCCTC
ATCTCCATGGGACTTGAGTCCAGTGCCATCTCCGTGGTGAAGATCCTGAGGGTGCTGAGG
GTGCTCCGACCACTCAGAGCCATCAACAGAGCCAAGGGGTTGAAGCACGTGGTGCAGTGC
ATGTTCGTGGCCATCAGCACCATCGGGAACATCGTGCTGGTCACTACCCTCCTACAGTTC
ATGTTTGCCTGCATCGGCGTCCAGCTCTTCAAGGGGAAGTTCTTCAGGTGCACCGACTTG
TCCAAGATGACAGAGGAGGAGTGCAGGGGCTACTACTACGTGTACAAGGACGGGGACCCC
ATGCAGATAGAGCTGCGTCACCGCGAGTGGGTACACAGCGACTTCCACTTCGACAATGTG
CTCTCAGCCATGATGTCCCTCTTCACGGTCTCCACCTTCGAGGGATGGCCTCAGCTGCTG
TACAAGGCCATAGACTCCAATGCGGAGGACGTGGGTCCCATCTACAACAACCGTGTGGAG
ATGGCCATCTTCTTCATCATCTACATCATCCTCATTGCCTTCTTCATGATGAACATCTTT
GTGGGCTTCGTCATTGTCACCTTCCAGGAGCAGGGAGAGACTGAGTACAAGAACTGTGAG
CTGGACAAGAACCAGCGCCAATGTGTACAGTATGCCCTGAAGGCCCGCCCACTGAGGTGC
TACATTCCCAAAAACCCATACCAGTACCAGGTGTGGTACATTGTCACCTCCTCCTACTTT
GAATACCTGATGTTTGCCCTCATCATGCTCAACACCATCTGCCTCGGCATGCAGCACTAC
AACCAGTCGGAGCAGATGAACCACATCTCAGACATCCTCAATGTGGCCTTCACTATCATC
TTCACCCTGGAGATGATCCTCAAGCTCATGGCCTTCAAGGCCAGGGGCTACTTTGGAGAC
CCCTGGAATGTGTTTGACTTCCTGATTGTCATTGGCAGCATCATTGATGTCATCCTCAGT
GAGATCGACACTTTCCTGGCCTCCAGCGGGGGACTGTATTGCCTGGGTGGAGGCTGCGGG
AACGTTGACCCAGATGAGAGTGCCCGCATCTCCAGCGCCTTCTTCCGCCTGTTCCGTGTC
ATGAGGCTGATCAAGCTGCTGAGCCGGGCAGAAGGAGTGCGAACCCTCCTGTGGACGTTC
ATCAAGTCCTTCCAGGCCCTACCCTACGTGGCTCTGCTCATCGTCATGCTCTTCTTCATC
TACGCTGTCATCGGCATGCAGATGTTTGGGAAGATCGCCTTGGTGGATGGGACCCAAATA
AACCGGAACAACAACTTCCAGACCTTCCCACAAGCTGTGCTACTGCTCTTCAGGTGTGCA
ACAGGTGAGGCCTGGCAGGAGATCCTACTGGCCTGCAGCTATGGGAAGCTGTGTGACCCA
GAGTCGGACTATGCCCCAGGGGAGGAGTACACATGTGGCACCAACTTTGCATACTACTAC
TTCATCAGCTTCTACATGCTCTGTGCCTTCCTGGTCATCAACCTCTTTGTGGCTGTCATC
ATGGACAATTTTGACTACCTCACCCGGGACTGGTCCATCCTGGGCCCTCATCACCTGGAT
GAGTTCAAGGCCATCTGGGCAGAGTATGACCCAGAGGCTAAGGGGAGAATCAAACACCTG
GACGTGGTGACCCTGCTGAGAAGGATTCAGCCCCCTCTGGGCTTTGGGAAGTTCTGCCCA
CATCGGGTAGCTTGTAAGCGGCTGGTGGGCATGAACATGCCCCTGAACAGCGACGGCACA
GTCACCTTCAATGCCACACTCTTTGCCCTGGTCCGCACGGCACTCAAGATCAAGACGGAA
GGTAACTTTGAGCAGGCCAACGAGGAGCTGAGGGCCATCATCAAGAAGATCTGGAAGAGA
ACCAGCATGAAGCTCTTGGACCAGGTCATCCCTCCAATAGGAGATGATGAGGTGACAGTG
GGGAAGTTCTACGCCACATTCCTCATCCAGGAGCACTTCCGGAAGTTCATGAAACGCCAA
GAGGAGTATTATGGCTATCGGCCCAAGAAGGACATTGTACAGATCCAGGCAGGGCTGCGG
ACCATTGAGGAAGAGGCAGCCCCCGAGATCTGTCGCACGGTCTCAGGAGACCTGGCTGCT
GAGGAGGAGCTGGAGAGAGCCATGGTGGAGGCTGCGATGGAGGAGGGAATATTCCGGAGG
ACTGGAGGCCTGTTTGGCCAGGTGGACAACTTCCTGGAAAGGACCAACTCCCTGCCCCCC
GTCATGGCCAATCAGAGACCCCTCCAGTTTGCTGAGATAGAGATGGAAGAGATGGAGTCA
CCTGTCTTCTTGGAGGACTTCCCACAAGATCCACGCACCAACCCCCTGGCTCGTGCCAAT
ACCAACAATGCCAACGCCAATGTCGCCTATGGCAACAGCAACCATAGCAACAGCCATGTG
TTTTCCAGTGTCCACTATGAAAGGGAGTTCCCAGAAGAGACAGAGACGCCTGCTACCAGA
GGACGAGCCCTTGGCCAACCCTGCAGGGTCCTGGGACCCCACAGCAAACCCTGTGTGGAG
ATGCTGAAGGGACTGCTGACCCAGAGGGCAATGCCCAGAGGCCAGGCACCTCCTGCCCCC
TGCCAGTGCCCCAGGGTGGAGTCCTCCATGCCTGAGGACAGAAAGAGCTCCACACCAGGG
TCTCTTCATGAGGAGACACCCCACAGCAGGAGCACCAGGGAGAATACTTCCAGGTGCTCA
GCACCAGCTACAGCCCTGCTGATCCAAAAGGCTCTGGTTCGAGGGGGCCTGGGCACCTTG
GCAGCTGATGCAAACTTCATCATGGCAACAGGCCAGGCCCTGGCAGATGCCTGCCAAATG
GAACCAGAGGAAGTGGAGATCATGGCAACAGAGCTACTGAAAGGACGAGAGGCCCCAGAG
GGCATGGCCAGCTCCCTGGGATGCCTGAACCTCGGGTCCTCCCTGGGCAGCCTCGACCAA
CACCAGGGCTCCCAGGAGACCCTTATTCCTCCAAGGCTGTGA
Protein Properties
Number of Residues 1873
Molecular Weight 212348.1
Theoretical pI 6.54
Pfam Domain Function
Signals
  • None
Transmembrane Regions
  • 52-70
  • 89-108
  • 121-139
  • 161-179
  • 199-218
  • 310-334
  • 433-451
  • 467-486
  • 495-513
  • 524-542
  • 562-581
  • 637-661
  • 800-818
  • 835-854
  • 867-885
  • 893-911
  • 931-950
  • 1041-1065
  • 1119-1137
  • 1153-1172
  • 1181-1199
  • 1232-1250
  • 1270-1289
  • 1357-1381
Protein Sequence
>Voltage-dependent L-type calcium channel subunit alpha-1S
MEPSSPQDEGLRKKQPKKPVPEILPRPPRALFCLTLENPLRKACISIVEWKPFETIILLT
IFANCVALAVYLPMPEDDNNSLNLGLEKLEYFFLIVFSIEAAMKIIAYGFLFHQDAYLRS
GWNVLDFTIVFLGVFTVILEQVNVIQSHTAPMSSKGAGLDVKALRAFRVLRPLRLVSGVP
SLQVVLNSIFKAMLPLFHIALLVLFMVIIYAIIGLELFKGKMHKTCYFIGTDIVATVENE
EPSPCARTGSGRRCTINGSECRGGWPGPNHGITHFDNFGFSMLTVYQCITMEGWTDVLYW
VNDAIGNEWPWIYFVTLILLGSFFILNLVLGVLSGEFTKEREKAKSRGTFQKLREKQQLD
EDLRGYMSWITQGEVMDVEDFREGKLSLDEGGSDTESLYEIAGLNKIIQFIRHWRQWNRI
FRWKCHDIVKSKVFYWLVILIVALNTLSIASEHHNQPLWLTRLQDIANRVLLSLFTTEML
MKMYGLGLRQYFMSIFNRFDCFVVCSGILEILLVESGAMTPLGISVLRCIRLLRIFKITK
YWTSLSNLVASLLNSIRSIASLLLLLFLFIVIFALLGMQLFGGRYDFEDTEVRRSNFDNF
PQALISVFQVLTGEDWTSMMYNGIMAYGGPSYPGMLVCIYFIILFVCGNYILLNVFLAIA
VDNLAEAESLTSAQKAKAEEKKRRKMSKGLPDKSEEEKSTMAKKLEQKPKGEGIPTTAKL
KIDEFESNVNEVKDPYPSADFPGDDEEDEPEIPLSPRPRPLAELQLKEKAVPIPEASSFF
IFSPTNKIRVLCHRIVNATWFTNFILLFILLSSAALAAEDPIRADSMRNQILKHFDIGFT
SVFTVEIVLKMTTYGAFLHKGSFCRNYFNMLDLLVVAVSLISMGLESSAISVVKILRVLR
VLRPLRAINRAKGLKHVVQCMFVAISTIGNIVLVTTLLQFMFACIGVQLFKGKFFRCTDL
SKMTEEECRGYYYVYKDGDPMQIELRHREWVHSDFHFDNVLSAMMSLFTVSTFEGWPQLL
YKAIDSNAEDVGPIYNNRVEMAIFFIIYIILIAFFMMNIFVGFVIVTFQEQGETEYKNCE
LDKNQRQCVQYALKARPLRCYIPKNPYQYQVWYIVTSSYFEYLMFALIMLNTICLGMQHY
NQSEQMNHISDILNVAFTIIFTLEMILKLMAFKARGYFGDPWNVFDFLIVIGSIIDVILS
EIDTFLASSGGLYCLGGGCGNVDPDESARISSAFFRLFRVMRLIKLLSRAEGVRTLLWTF
IKSFQALPYVALLIVMLFFIYAVIGMQMFGKIALVDGTQINRNNNFQTFPQAVLLLFRCA
TGEAWQEILLACSYGKLCDPESDYAPGEEYTCGTNFAYYYFISFYMLCAFLVINLFVAVI
MDNFDYLTRDWSILGPHHLDEFKAIWAEYDPEAKGRIKHLDVVTLLRRIQPPLGFGKFCP
HRVACKRLVGMNMPLNSDGTVTFNATLFALVRTALKIKTEGNFEQANEELRAIIKKIWKR
TSMKLLDQVIPPIGDDEVTVGKFYATFLIQEHFRKFMKRQEEYYGYRPKKDIVQIQAGLR
TIEEEAAPEICRTVSGDLAAEEELERAMVEAAMEEGIFRRTGGLFGQVDNFLERTNSLPP
VMANQRPLQFAEIEMEEMESPVFLEDFPQDPRTNPLARANTNNANANVAYGNSNHSNSHV
FSSVHYEREFPEETETPATRGRALGQPCRVLGPHSKPCVEMLKGLLTQRAMPRGQAPPAP
CQCPRVESSMPEDRKSSTPGSLHEETPHSRSTRENTSRCSAPATALLIQKALVRGGLGTL
AADANFIMATGQALADACQMEPEEVEIMATELLKGREAPEGMASSLGCLNLGSSLGSLDQ
HQGSQETLIPPRL
GenBank ID Protein 56204406
UniProtKB/Swiss-Prot ID Q13698
UniProtKB/Swiss-Prot Entry Name CAC1S_HUMAN
PDB IDs Not Available
GenBank Gene ID AL139159
GeneCard ID CACNA1S
GenAtlas ID CACNA1S
HGNC ID HGNC:1397
References
General References
  1. 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. [PubMed:15489334 ]
  2. Gregory SG, Barlow KF, McLay KE, Kaul R, Swarbreck D, Dunham A, Scott CE, Howe KL, Woodfine K, Spencer CC, Jones MC, Gillson C, Searle S, Zhou Y, Kokocinski F, McDonald L, Evans R, Phillips K, Atkinson A, Cooper R, Jones C, Hall RE, Andrews TD, Lloyd C, Ainscough R, Almeida JP, Ambrose KD, Anderson F, Andrew RW, Ashwell RI, Aubin K, Babbage AK, Bagguley CL, Bailey J, Beasley H, Bethel G, Bird CP, Bray-Allen S, Brown JY, Brown AJ, Buckley D, Burton J, Bye J, Carder C, Chapman JC, Clark SY, Clarke G, Clee C, Cobley V, Collier RE, Corby N, Coville GJ, Davies J, Deadman R, Dunn M, Earthrowl M, Ellington AG, Errington H, Frankish A, Frankland J, French L, Garner P, Garnett J, Gay L, Ghori MR, Gibson R, Gilby LM, Gillett W, Glithero RJ, Grafham DV, Griffiths C, Griffiths-Jones S, Grocock R, Hammond S, Harrison ES, Hart E, Haugen E, Heath PD, Holmes S, Holt K, Howden PJ, Hunt AR, Hunt SE, Hunter G, Isherwood J, James R, Johnson C, Johnson D, Joy A, Kay M, Kershaw JK, Kibukawa M, Kimberley AM, King A, Knights AJ, Lad H, Laird G, Lawlor S, Leongamornlert DA, Lloyd DM, Loveland J, Lovell J, Lush MJ, Lyne R, Martin S, Mashreghi-Mohammadi M, Matthews L, Matthews NS, McLaren S, Milne S, Mistry S, Moore MJ, Nickerson T, O'Dell CN, Oliver K, Palmeiri A, Palmer SA, Parker A, Patel D, Pearce AV, Peck AI, Pelan S, Phelps K, Phillimore BJ, Plumb R, Rajan J, Raymond C, Rouse G, Saenphimmachak C, Sehra HK, Sheridan E, Shownkeen R, Sims S, Skuce CD, Smith M, Steward C, Subramanian S, Sycamore N, Tracey A, Tromans A, Van Helmond Z, Wall M, Wallis JM, White S, Whitehead SL, Wilkinson JE, Willey DL, Williams H, Wilming L, Wray PW, Wu Z, Coulson A, Vaudin M, Sulston JE, Durbin R, Hubbard T, Wooster R, Dunham I, Carter NP, McVean G, Ross MT, Harrow J, Olson MV, Beck S, Rogers J, Bentley DR, Banerjee R, Bryant SP, Burford DC, Burrill WD, Clegg SM, Dhami P, Dovey O, Faulkner LM, Gribble SM, Langford CF, Pandian RD, Porter KM, Prigmore E: The DNA sequence and biological annotation of human chromosome 1. Nature. 2006 May 18;441(7091):315-21. [PubMed:16710414 ]
  3. Hogan K, Powers PA, Gregg RG: Cloning of the human skeletal muscle alpha 1 subunit of the dihydropyridine-sensitive L-type calcium channel (CACNL1A3). Genomics. 1994 Dec;24(3):608-9. [PubMed:7713519 ]
  4. Hogan K, Gregg RG, Powers PA: The structure of the gene encoding the human skeletal muscle alpha 1 subunit of the dihydropyridine-sensitive L-type calcium channel (CACNL1A3). Genomics. 1996 Feb 1;31(3):392-4. [PubMed:8838325 ]
  5. Gregg RG, Couch F, Hogan K, Powers PA: Assignment of the human gene for the alpha 1 subunit of the skeletal muscle DHP-sensitive Ca2+ channel (CACNL1A3) to chromosome 1q31-q32. Genomics. 1993 Jan;15(1):107-12. [PubMed:7916735 ]
  6. Ptacek LJ, Tawil R, Griggs RC, Engel AG, Layzer RB, Kwiecinski H, McManis PG, Santiago L, Moore M, Fouad G, et al.: Dihydropyridine receptor mutations cause hypokalemic periodic paralysis. Cell. 1994 Jun 17;77(6):863-8. [PubMed:8004673 ]
  7. Jurkat-Rott K, Lehmann-Horn F, Elbaz A, Heine R, Gregg RG, Hogan K, Powers PA, Lapie P, Vale-Santos JE, Weissenbach J, et al.: A calcium channel mutation causing hypokalemic periodic paralysis. Hum Mol Genet. 1994 Aug;3(8):1415-9. [PubMed:7987325 ]
  8. Monnier N, Procaccio V, Stieglitz P, Lunardi J: Malignant-hyperthermia susceptibility is associated with a mutation of the alpha 1-subunit of the human dihydropyridine-sensitive L-type voltage-dependent calcium-channel receptor in skeletal muscle. Am J Hum Genet. 1997 Jun;60(6):1316-25. [PubMed:9199552 ]
  9. Kim JB, Kim MH, Lee SJ, Kim DJ, Lee BC: The genotype and clinical phenotype of Korean patients with familial hypokalemic periodic paralysis. J Korean Med Sci. 2007 Dec;22(6):946-51. [PubMed:18162704 ]
  10. Houinato D, Laleye A, Adjien C, Adjagba M, Sternberg D, Hilbert P, Vallat JM, Darboux RB, Funalot B, Avode DG: Hypokalaemic periodic paralysis due to the CACNA1S R1239H mutation in a large African family. Neuromuscul Disord. 2007 May;17(5):419-22. Epub 2007 Apr 5. [PubMed:17418573 ]
  11. Matthews E, Labrum R, Sweeney MG, Sud R, Haworth A, Chinnery PF, Meola G, Schorge S, Kullmann DM, Davis MB, Hanna MG: Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis. Neurology. 2009 May 5;72(18):1544-7. doi: 10.1212/01.wnl.0000342387.65477.46. Epub 2008 Dec 31. [PubMed:19118277 ]