SCN8A

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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
Identifiers
Symbols SCN8A ; CERIII; CIAT; EIEE13; MED; NaCh6; Nav1.6; PN4
External IDs OMIM600702 MGI103169 HomoloGene7927 IUPHAR: Nav1.6 ChEMBL: 5202 GeneCards: SCN8A Gene
RNA expression pattern
PBB GE SCN8A 207049 at tn.png
More reference expression data
Orthologs
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:
51.98 – 52.2 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[edit]

References[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.