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SCN8A  -  sodium channel, voltage gated, type VIII...

Homo sapiens

Synonyms: CERIII, CIAT, CerIII, EIEE13, MED, ...
 
 
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Disease relevance of SCN8A

 

Psychiatry related information on SCN8A

 

High impact information on SCN8A

  • Our results demonstrate the molecular identities of the sodium channels expressed along demyelinated and degenerating axons in MS and suggest that coexpression of Nav1.6 and Na+/Ca2+ exchanger is associated with axonal degeneration in MS [4].
  • This new model suggests that SCN8A on chromosome 12q13 and SCNM1 on chromosome 1p21-1q21 may contribute to human inherited dystonia [6].
  • This region harbors the type II keratin gene cluster, and potential candidate genes include SCN8A and HOXC genes [7].
  • Alternative splicing of human transcripts for a subset of the genes that are expressed in dorsal root ganglia, SCN8A (Na(v)1.6), SCN9A (Na(v)1.7), and SCN11A (Na(v)1.9) was characterized in detail [8].
  • Alternative splicing of the sodium channel SCN8A predicts a truncated two-domain protein in fetal brain and non-neuronal cells [9].
 

Biological context of SCN8A

  • Consistent down-regulation of all transcripts was observed, as well as significant changes in the splicing patterns of SCN8A and SCN9A [8].
  • Exon organization, coding sequence, physical mapping, and polymorphic intragenic markers for the human neuronal sodium channel gene SCN8A [2].
  • The SCN8A protein is evolutionarily conserved, with 98.5% amino acid sequence identity between human and mouse [2].
  • The polymorphic (CA)n microsatellite marker D12S2211, with PIC = 0.68, was isolated from intron 10C of SCN8A [2].
  • Suicide attempt and basic mechanisms in neural conduction: relationships to the SCN8A and VAMP4 genes [10].
 

Anatomical context of SCN8A

  • The voltage-gated sodium channel alpha subunit SCN8A is one of the most abundant sodium channels in neurons from brain and spinal cord [9].
  • In this study, we explored whether ankyrin-G has a role in modifying gating properties of the neuronal Nav1.6 channel that is predominantly localized at nodes of Ranvier and initial segments [11].
  • The somato-dendritic localization of Nav1.1 and Nav1.6 in Purkinje cells suggests that these isoforms are involved in the integration of synaptic input [12].
  • Deep cerebellar nuclei neurons expressed Nav1.1 and Nav1.6 as well as Nabeta1 [12].
  • Bergmann glia expressed Nav1.6, but not granule cell layer astrocytes [12].
 

Associations of SCN8A with chemical compounds

  • The substitution of S553 with alanine within L1 of the Nav1.6 channel prevents p38-mediated reduction of Nav1.6 current density [13].
 

Other interactions of SCN8A

  • Calmodulin binds to the C terminus of sodium channels Nav1.4 and Nav1.6 and differentially modulates their functional properties [14].
 

Analytical, diagnostic and therapeutic context of SCN8A

  • Sequence analysis shows that Nav1.6 contains a putative MAP kinase-recognition module in the cytoplasmic loop (L1), which joins domains 1 and 2 [13].
  • In situ hybridization and immunolocalization studies demonstrated that granule cells predominantly express Nav1.2, Nav1.6, Nabeta1, and Nabeta2 [12].

References

  1. Mutation of a new sodium channel gene, Scn8a, in the mouse mutant 'motor endplate disease'. Burgess, D.L., Kohrman, D.C., Galt, J., Plummer, N.W., Jones, J.M., Spear, B., Meisler, M.H. Nat. Genet. (1995) [Pubmed]
  2. Exon organization, coding sequence, physical mapping, and polymorphic intragenic markers for the human neuronal sodium channel gene SCN8A. Plummer, N.W., Galt, J., Jones, J.M., Burgess, D.L., Sprunger, L.K., Kohrman, D.C., Meisler, M.H. Genomics (1998) [Pubmed]
  3. The spastic paraplegia SPG10 locus: narrowing of critical region and exclusion of sodium channel gene SCN8A as a candidate. Reid, E., Escayg, A., Dearlove, A.M., Meisler, M.H., Rubinsztein, D.C. J. Med. Genet. (2001) [Pubmed]
  4. Molecular changes in neurons in multiple sclerosis: altered axonal expression of Nav1.2 and Nav1.6 sodium channels and Na+/Ca2+ exchanger. Craner, M.J., Newcombe, J., Black, J.A., Hartle, C., Cuzner, M.L., Waxman, S.G. Proc. Natl. Acad. Sci. U.S.A. (2004) [Pubmed]
  5. Heterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia, and mental retardation. Trudeau, M.M., Dalton, J.C., Day, J.W., Ranum, L.P., Meisler, M.H. J. Med. Genet. (2006) [Pubmed]
  6. Dystonia associated with mutation of the neuronal sodium channel Scn8a and identification of the modifier locus Scnm1 on mouse chromosome 3. Sprunger, L.K., Escayg, A., Tallaksen-Greene, S., Albin, R.L., Meisler, M.H. Hum. Mol. Genet. (1999) [Pubmed]
  7. Linkage of the gene for the triple A syndrome to chromosome 12q13 near the type II keratin gene cluster. Weber, A., Wienker, T.F., Jung, M., Easton, D., Dean, H.J., Heinrichs, C., Reis, A., Clark, A.J. Hum. Mol. Genet. (1996) [Pubmed]
  8. Expression of alternatively spliced sodium channel alpha-subunit genes. Unique splicing patterns are observed in dorsal root ganglia. Raymond, C.K., Castle, J., Garrett-Engele, P., Armour, C.D., Kan, Z., Tsinoremas, N., Johnson, J.M. J. Biol. Chem. (2004) [Pubmed]
  9. Alternative splicing of the sodium channel SCN8A predicts a truncated two-domain protein in fetal brain and non-neuronal cells. Plummer, N.W., McBurney, M.W., Meisler, M.H. J. Biol. Chem. (1997) [Pubmed]
  10. Suicide attempt and basic mechanisms in neural conduction: relationships to the SCN8A and VAMP4 genes. Wasserman, D., Geijer, T., Rozanov, V., Wasserman, J. Am. J. Med. Genet. B Neuropsychiatr. Genet. (2005) [Pubmed]
  11. Ankyrin-G regulates inactivation gating of the neuronal sodium channel, Nav1.6. Shirahata, E., Iwasaki, H., Takagi, M., Lin, C., Bennett, V., Okamura, Y., Hayasaka, K. J. Neurophysiol. (2006) [Pubmed]
  12. Expression and distribution of voltage-gated sodium channels in the cerebellum. Schaller, K.L., Caldwell, J.H. Cerebellum (2003) [Pubmed]
  13. Voltage-gated sodium channel Nav1.6 is modulated by p38 mitogen-activated protein kinase. Wittmack, E.K., Rush, A.M., Hudmon, A., Waxman, S.G., Dib-Hajj, S.D. J. Neurosci. (2005) [Pubmed]
  14. Calmodulin binds to the C terminus of sodium channels Nav1.4 and Nav1.6 and differentially modulates their functional properties. Herzog, R.I., Liu, C., Waxman, S.G., Cummins, T.R. J. Neurosci. (2003) [Pubmed]
 
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