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Open Access Articles- Top Results for SCN8A

SCN8A

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Identifiers
SymbolsSCN8A ; CERIII; CIAT; EIEE13; MED; NaCh6; Nav1.6; PN4
External IDsOMIM600702 MGI103169 HomoloGene7927 IUPHAR: 583 ChEMBL: 5202 GeneCards: SCN8A Gene
RNA expression pattern
File:PBB GE SCN8A 207049 at tn.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez633420273
EnsemblENSG00000196876ENSMUSG00000023033
UniProtQ9UQD0Q9WTU3
RefSeq (mRNA)NM_001177984NM_001077499
RefSeq (protein)NP_001171455NP_001070967
Location (UCSC)Chr 12:
51.98 – 52.21 Mb
Chr 15:
100.87 – 101.05 Mb
PubMed search[1][2]

Sodium channel, voltage gated, type VIII, alpha subunit also known as SCN8A or Nav1.6 is a protein which in humans is encoded by the SCN8A gene.[1] It is a voltage-gated sodium channel.

The ion channel was discovered by John Caldwell and colleagues at the University of Colorado Health Sciences Center in the rat,[2] and by Miriam Meisler and colleagues at the University of Michigan Medical School in the mouse.[3]

Mutations in this gene have been associated to cases of early infantile epileptic encephalopathy.(PMID:24352161)


See also

References

Further reading

  • Catterall WA, Goldin AL, Waxman SG (2006). "International Union of Pharmacology. XLVII. Nomenclature and structure-function relationships of voltage-gated sodium channels.". Pharmacol. Rev. 57 (4): 397–409. PMID 16382098. doi:10.1124/pr.57.4.4. 
  • Burgess DL; Kohrman DC; Galt J et al. (1995). "Mutation of a new sodium channel gene, Scn8a, in the mouse mutant 'motor endplate disease'". Nat. Genet. 10 (4): 461–5. PMID 7670495. doi:10.1038/ng0895-461. 
  • Plummer NW, McBurney MW, Meisler MH (1997). "Alternative splicing of the sodium channel SCN8A predicts a truncated two-domain protein in fetal brain and non-neuronal cells". J. Biol. Chem. 272 (38): 24008–15. PMID 9295353. doi:10.1074/jbc.272.38.24008. 
  • Plummer NW; Galt J; Jones JM et al. (1999). "Exon organization, coding sequence, physical mapping, and polymorphic intragenic markers for the human neuronal sodium channel gene SCN8A". Genomics 54 (2): 287–96. PMID 9828131. doi:10.1006/geno.1998.5550. 
  • Anis Y; Nürnberg B; Visochek L et al. (1999). "Activation of Go-proteins by membrane depolarization traced by in situ photoaffinity labeling of galphao-proteins with [alpha32P]GTP-azidoanilide". J. Biol. Chem. 274 (11): 7431–40. PMID 10066808. doi:10.1074/jbc.274.11.7431. 
  • Caldwell JH; Schaller KL; Lasher RS et al. (2000). "Sodium channel Nav1.6 is localized at nodes of Ranvier, dendrites, and synapses". Proc. Natl. Acad. Sci. U.S.A. 97 (10): 5616–20. PMC 25877. PMID 10779552. doi:10.1073/pnas.090034797. 
  • Wittmack EK; Rush AM; Craner MJ et al. (2005). "Fibroblast growth factor homologous factor 2B: association with Nav1.6 and selective colocalization at nodes of Ranvier of dorsal root axons". J. Neurosci. 24 (30): 6765–75. PMID 15282281. doi:10.1523/JNEUROSCI.1628-04.2004. 
  • Raymond CK; Castle J; Garrett-Engele P et al. (2004). "Expression of alternatively spliced sodium channel alpha-subunit genes. Unique splicing patterns are observed in dorsal root ganglia". J. Biol. Chem. 279 (44): 46234–41. PMID 15302875. doi:10.1074/jbc.M406387200. 
  • Drews VL, Lieberman AP, Meisler MH (2005). "Multiple transcripts of sodium channel SCN8A (Na(V)1.6) with alternative 5'- and 3'-untranslated regions and initial characterization of the SCN8A promoter". Genomics 85 (2): 245–57. PMID 15676283. doi:10.1016/j.ygeno.2004.09.002. 
  • Wittmack EK; Rush AM; Hudmon A et al. (2006). "Voltage-gated sodium channel Nav1.6 is modulated by p38 mitogen-activated protein kinase". J. Neurosci. 25 (28): 6621–30. PMID 16014723. doi:10.1523/JNEUROSCI.0541-05.2005. 
  • Schiavon E; Sacco T; Cassulini RR et al. (2006). "Resurgent current and voltage sensor trapping enhanced activation by a beta-scorpion toxin solely in Nav1.6 channel. Significance in mice Purkinje neurons". J. Biol. Chem. 281 (29): 20326–37. PMID 16702217. doi:10.1074/jbc.M600565200. 
  • Shirahata E; Iwasaki H; Takagi M et al. (2006). "Ankyrin-G regulates inactivation gating of the neuronal sodium channel, Nav1.6". J. Neurophysiol. 96 (3): 1347–57. PMID 16775201. doi:10.1152/jn.01264.2005. 
  • Black JA, Newcombe J, Trapp BD, Waxman SG (2007). "Sodium channel expression within chronic multiple sclerosis plaques". J. Neuropathol. Exp. Neurol. 66 (9): 828–37. PMID 17805013. doi:10.1097/nen.0b013e3181462841. 
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This article incorporates text from the United States National Library of Medicine, which is in the public domain.


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