Genomes and Genes
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
- 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)...
- 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. ..
- 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. ..
- 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.
- 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...
- Corrochano S, MÃ¤nnikkÃ¶ 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 publisherMutations 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...
- 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...
- 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
- 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. ..
- 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. ..