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FLASH GENE
Symbol SCN4A contributors: mct/npt - updated : 12-01-2016
HGNC name sodium channel, voltage-gated, type IV, alpha subunit
HGNC id 10591
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • four transmembrane (4TM) domains of homology
  • each with six alpha helical membrane spanning segments
  • two cytoplasmic loops
    • secondary structure an alpha subunit and a smaller beta subunit
    HOMOLOGY
    interspecies homolog to murine Scn4a
    Homologene
    FAMILY
  • sodium channel family
    • CATEGORY transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • mediating the voltage-dependent sodium ion permeability of excitable membranes
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • protein constituent of membrane
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) HYKPP , HOKPP2 , PMC , CMS16
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS