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Description for Protein SCN8A

sodium channel, voltage gated, type VIII, alpha subunit
3 total interacting proteins; 2 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
This gene encodes a member of the sodium channel alpha subunit gene family. The encoded protein forms the ion pore region of the voltage-gated sodium channel. This protein is essential for the rapid membrane depolarization that occurs during the formation of the action potential in excitable neurons. Mutations in this gene are associated with mental retardation, pancerebellar atrophy and ataxia. Alternate splicing results in multiple transcript variants. (PubMed Links)
Domains and Motifs:
  • TM: Transmembrane domain
  • IQ: Short calmodulin-binding motif containing conserved Ile and Gln residues.
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K04840
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    MED; Na(v)1.6
    Approved Symbol:
    SCN8A
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 0
    No human (de-) phosphorylation sites; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

    None Available

    Associated Genetic Diseases:

  • Cerebellar atrophy, ataxia, and mental retardation(Pd)
    		• Predicted Transmembrane Domains:
    09006_1(19)
    Additional Identifiers:

    HPRD: 09006 Entrez Gene ID: 6334 OMIM ID: 600702 Swissprot Accession: Q9UQD0;