SCN2A抗体;SCN2A Antibody—艾普蒂

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     The image is immunohistochemistry of paraffin-embedded Human ovarian cancer tissue using P11334(SCN2A Antibody) at dilution 1/40. (Original magnification: ×200)    

  
  

The SCN2A gene encodes the voltage-gated sodium channel Nav1.2. critical for initiating and propagating action potentials in excitable cells, particularly neurons. Expressed predominantly in the central nervous system, Nav1.2 is enriched in axonal initial segments and nodes of Ranvier during early brain development. Mutations in SCN2A are linked to neurodevelopmental disorders, including epilepsy (e.g., benign familial neonatal-infantile seizures, Dravet syndrome), autism spectrum disorder, and intellectual disability. Both gain- and loss-of-function variants occur, with phenotypic severity often correlating with mutation type and timing of channel dysfunction during development.

SCN2A antibodies are essential tools for studying Nav1.2 expression, localization, and functional alterations in disease models. They enable detection via techniques like immunohistochemistry, Western blotting, and immunofluorescence, aiding research into channelopathies and neuronal excitability mechanisms. Commercially available antibodies target specific epitopes (e.g., intracellular or extracellular domains), requiring validation for specificity due to homology among sodium channel isoforms. Recent studies also explore SCN2A autoantibodies in autoimmune encephalitis, expanding their clinical relevance. These antibodies underpin translational research to identify therapeutic targets, assess antisense oligonucleotide efficacy, or validate CRISPR-edited models, advancing precision medicine for SCN2A-related disorders.