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SCN1A  
    


    
      Official symbol:  SCN1A
      Full name:  sodium voltage-gated channel alpha subunit 1
      Location:  2q24.3
      Also known as:  NAC1, FEB3, HBSCI, GEFSP2, SMEI, SCN1, Nav1.1
      Entrez ID:  6323
      Ensembl ID:  ENSG00000144285
      Summary:  Voltage-dependent sodium channels are heteromeric complexes that regulate sodium exchange between intracellular and extracellular spaces and are essential for the generation and propagation of action potentials in muscle cells and neurons. Each sodium channel is composed of a large pore-forming, glycosylated alpha subunit and two smaller beta subunits. This gene encodes a sodium channel alpha subunit, which has four homologous domains, each of which contains six transmembrane regions. Allelic variants of this gene are associated with generalized epilepsy with febrile seizures and epileptic encephalopathy. Alternative splicing results in multiple transcript variants. The RefSeq Project has decided to create four representative RefSeq records. Three of the transcript variants are supported by experimental evidence and the fourth contains alternate 5' untranslated exons, the exact combination of which have not been experimentally confirmed for the full-length transcript. [provided by RefSeq, Oct 2015]

    

    
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Gscore (Amp):  0.00  
Gscore (Del):  0.00  
 
   

    
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  Tissue specific distribution
    
 
Mscore:  0.00  
 
   

    
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Total fusion occurrence:  0  
 
 
 

    
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      Functional class:  Ion channel
      JensenLab PubMed score:  554.61  (Percentile rank: 91.63%)
      PubTator score:  636.77  (Percentile rank: 94.73%)
      Target development/druggability level:  TclinThese targets have activities in DrugCentral (ie. approved drugs) with known mechanism of action.
      Tractability (small molecule):  Clinical PrecedenceTargets with drugs in phase II or above; Pre-clinical targets
      Tractability (antibody):  Predicted Tractable - High confidenceTargets located in the plasma membrane; Targets with GO cell component terms plasma membrane or secreted

    







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