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Sodium channel, voltage gated, type VIII alpha subunit
Protein SCN8A PDB 1byy.png
PDB rendering based on 1byy.
Available structures
PDB Ortholog search: PDBe, RCSB
Symbols SCN8A ; CERIII; CIAT; EIEE13; MED; NaCh6; Nav1.6; PN4
External IDs OMIM600702 MGI103169 HomoloGene7927 IUPHAR: 583 ChEMBL: 5202 GeneCards: SCN8A Gene
RNA expression pattern
PBB GE SCN8A 207049 at tn.png
More reference expression data
Species Human Mouse
Entrez 6334 20273
Ensembl ENSG00000196876 ENSMUSG00000023033
UniProt Q9UQD0 Q9WTU3
RefSeq (mRNA) NM_001177984 NM_001077499
RefSeq (protein) NP_001171455 NP_001070967
Location (UCSC) Chr 12:
51.59 – 51.81 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). The first known mutation in humans was a missense (c.5302A>G [p.Asn1768Asp]) mutation discovered by Krishna Veeramah and Michael Hammer at the University of Arizona.[4]

See also[edit]


Further reading[edit]

  • 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. doi:10.1124/pr.57.4.4. PMID 16382098. 
  • 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. doi:10.1038/ng0895-461. PMID 7670495. 
  • 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. doi:10.1074/jbc.272.38.24008. PMID 9295353. 
  • 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. doi:10.1006/geno.1998.5550. PMID 9828131. 
  • 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. doi:10.1074/jbc.274.11.7431. PMID 10066808. 
  • 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. doi:10.1073/pnas.090034797. PMC 25877. PMID 10779552. 
  • 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. doi:10.1523/JNEUROSCI.1628-04.2004. PMID 15282281. 
  • 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. doi:10.1074/jbc.M406387200. PMID 15302875. 
  • 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. doi:10.1016/j.ygeno.2004.09.002. PMID 15676283. 
  • 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. doi:10.1523/JNEUROSCI.0541-05.2005. PMID 16014723. 
  • 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. doi:10.1074/jbc.M600565200. PMID 16702217. 
  • 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. doi:10.1152/jn.01264.2005. PMID 16775201. 
  • 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. doi:10.1097/nen.0b013e3181462841. PMID 17805013. 

This article incorporates text from the United States National Library of Medicine, which is in the public domain.