Scn4a

Summary

Gene Symbol: Scn4a
Description: sodium channel, voltage-gated, type IV, alpha
Alias: Nav1.4, SkM1, mH2, sodium channel protein type 4 subunit alpha, sodium channel alpha-subunit, sodium channel protein skeletal muscle subunit alpha, sodium channel protein type IV subunit alpha, sodium channel, voltage-gated, type IV, alpha polypeptide, voltage-gated sodium channel subunit alpha Nav1.4
Species: mouse
Products:     Scn4a

Top Publications

  1. Wu F, Mi W, Burns D, Fu Y, Gray H, Struyk A, et al. A sodium channel knockin mutant (NaV1.4-R669H) mouse model of hypokalemic periodic paralysis. J Clin Invest. 2011;121:4082-94 pubmed publisher
    ..4 channels...
  2. Ribaux P, Bleicher F, Couble M, Amsellem J, Cohen S, Berthier C, et al. Voltage-gated sodium channel (SkM1) content in dystrophin-deficient muscle. Pflugers Arch. 2001;441:746-55 pubmed
    ..disruptions that occur in the absence of dystrophin led us to investigate the voltage-gated sodium channel (SkM1) content in the extensor digitorum longus (EDL) muscle of the dystrophin-deficient mdx mouse...
  3. Hayward L, Kim J, Lee M, Zhou H, Kim J, Misra K, et al. Targeted mutation of mouse skeletal muscle sodium channel produces myotonia and potassium-sensitive weakness. J Clin Invest. 2008;118:1437-49 pubmed publisher
  4. Ptacek L, Tawil R, Griggs R, Meola G, McManis P, Barohn R, et al. Sodium channel mutations in acetazolamide-responsive myotonia congenita, paramyotonia congenita, and hyperkalemic periodic paralysis. Neurology. 1994;44:1500-3 pubmed
    ..Electrophysiologic characterization of specific mutations will lead to better understanding of the biophysics of this voltage-gated ion channel...
  5. Crawshaw L, Wallace H, Christensen R, Crabbe J. Influence of ethanol on thermoregulation: mapping quantitative trait loci. Physiol Genomics. 2001;7:159-69 pubmed
    ..To our knowledge, this is the first report of QTLs that underlie changes in regulation as well as the disruption of a physiological regulatory system. ..
  6. Khogali S, Lucas B, Ammar T, DeJong D, Barbalinardo M, Hayward L, et al. Physiological basis for muscle stiffness and weakness in a knock-in M1592V mouse model of hyperkalemic periodic paralysis. Physiol Rep. 2015;3: pubmed publisher
    ..4 channel content. ..
  7. Lee J, Lee B, Choi S, Yoon I, Shin T, Pyo M, et al. Involvement of batrachotoxin binding sites in ginsenoside-mediated voltage-gated Na+ channel regulation. Brain Res. 2008;1203:61-7 pubmed publisher
    ..These results indicate that BTX binding sites play an important role in modifying Rg3-mediated Na+ channel properties. ..
  8. Wu F, Mi W, Fu Y, STRUYK A, Cannon S. Mice with an NaV1.4 sodium channel null allele have latent myasthenia, without susceptibility to periodic paralysis. Brain. 2016;139:1688-99 pubmed publisher
    Over 60 mutations of SCN4A encoding the NaV1.4 sodium channel of skeletal muscle have been identified in patients with myotonia, periodic paralysis, myasthenia, or congenital myopathy...
  9. Ambrose C, Cheng S, Fontaine B, Nadeau J, Macdonald M, Gusella J. The alpha-subunit of the skeletal muscle sodium channel is encoded proximal to Tk-1 on mouse chromosome 11. Mamm Genome. 1992;3:151-5 pubmed
    ..human chromosome and mouse Chr 11, we typed an interspecies backcross to determine whether the murine homolog (Scn4a) of this sodium channel gene mapped within the conserved chromosomal segment...

More Information

Publications19

  1. Clausen T, Nielsen O, Clausen J, Pedersen T, Hayward L. Na+,K+-pump stimulation improves contractility in isolated muscles of mice with hyperkalemic periodic paralysis. J Gen Physiol. 2011;138:117-30 pubmed publisher
    ..4, Met1592Val) causing human HyperKPP was targeted into the mouse SCN4A gene (mutants)...
  2. Zhang M, Green B, Catlin P, Fiedler B, Azam L, Chadwick A, et al. Structure/function characterization of micro-conotoxin KIIIA, an analgesic, nearly irreversible blocker of mammalian neuronal sodium channels. J Biol Chem. 2007;282:30699-706 pubmed
    ..2 and that further engineering of micro-conopeptides belonging to the KIIIA group may provide subtype-selective pharmacological compounds for mammalian neuronal sodium channels and potential therapeutics for the treatment of pain. ..
  3. Ramsdell C, Thames E, Weston J, Dewey M. Development of a deer mouse whole-genome radiation hybrid panel and comparative mapping of Mus chromosome 11 loci. Mamm Genome. 2006;17:37-48 pubmed
    ..Furthermore, this separate linkage group is likely to reside in a chromosomal region of inversion polymorphism between P. maniculatus and P. polionotus. ..
  4. Shirakawa T, Sakai K, Kitagawa Y, Hori A, Hirose G. A novel murine myotonia congenita without molecular defects in the ClC-1 and the SCN4A. Neurology. 2002;59:1091-4 pubmed
    ..The phenotype was transmitted with autosomal recessive inheritance. Molecular genetic study of the ClC-1 and the SCN4A genes revealed polymorphism with no functional consequences.
  5. Hirn C, Shapovalov G, Petermann O, Roulet E, Ruegg U. Nav1.4 deregulation in dystrophic skeletal muscle leads to Na+ overload and enhanced cell death. J Gen Physiol. 2008;132:199-208 pubmed publisher
    ..4 gating properties and increased Na(+) concentrations are strongly correlated with increased cell death in mdx fibers and that both cell death and Na(+) overload can be reversed by 3 nM tetrodotoxin, a specific Na(v)1.4 blocker...
  6. Corrochano S, Männikkö R, Joyce P, McGoldrick P, Wettstein J, Lassi G, et al. Novel mutations in human and mouse SCN4A implicate AMPK in myotonia and periodic paralysis. Brain. 2014;137:3171-85 pubmed publisher
    Mutations in the skeletal muscle channel (SCN4A), encoding the Nav1.4 voltage-gated sodium channel, are causative of a variety of muscle channelopathies, including non-dystrophic myotonias and periodic paralysis...
  7. Zimmer T, Bollensdorff C, Haufe V, Birch Hirschfeld E, Benndorf K. Mouse heart Na+ channels: primary structure and function of two isoforms and alternatively spliced variants. Am J Physiol Heart Circ Physiol. 2002;282:H1007-17 pubmed
    ..Sequence comparisons indicated that mH1 is highly homologous to rat SCN5A, whereas mH2 is highly homologous to SCN4A, expressed in rat skeletal muscle...
  8. Lueck J, Lungu C, Mankodi A, Osborne R, Welle S, Dirksen R, et al. Chloride channelopathy in myotonic dystrophy resulting from loss of posttranscriptional regulation for CLCN1. Am J Physiol Cell Physiol. 2007;292:C1291-7 pubmed
  9. Lucas B, Ammar T, Khogali S, DeJong D, Barbalinardo M, Nishi C, et al. Contractile abnormalities of mouse muscles expressing hyperkalemic periodic paralysis mutant NaV1.4 channels do not correlate with Na+ influx or channel content. Physiol Genomics. 2014;46:385-97 pubmed publisher
    ..This study provides evidence that HyperKPP phenotype does not depend solely on the NaV1.4 content or Na(+) influx and that the diaphragm does not depend solely on Na(+)-K(+) pumps to ameliorate the phenotype. ..
  10. Haufe V, Camacho J, Dumaine R, Günther B, Bollensdorff C, von Banchet G, et al. Expression pattern of neuronal and skeletal muscle voltage-gated Na+ channels in the developing mouse heart. J Physiol. 2005;564:683-96 pubmed
    ..Our data suggest that neuronal and skeletal muscle Na(+) channels contribute to the action potential of cardiomyocytes in the adult mammalian heart. ..