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Neuroscience Neurotransmission Receptors / Channels Sodium Channels
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Recombinant Human SCN2A protein (ab114727)

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SDS-PAGE - Recombinant Human SCN2A protein (ab114727)

    Key features and details

    • Expression system: Wheat germ
    • Suitable for: ELISA, SDS-PAGE, WB

    Description

    • Product name

      Recombinant Human SCN2A protein
    • Expression system

      Wheat germ
    • Accession

      Q99250
    • Protein length

      Protein fragment
    • Animal free

      No
    • Nature

      Recombinant
      • Species

        Human
      • Sequence

        NLRNKCLQWPPDNSSFEINITSFFNNSLDGNGTTFNRTVSIFNWDEYIED KSHFYFLEGQNDALLCGNSSDAGQCPEGYICVKAGRNPNY
      • Predicted molecular weight

        36 kDa including tags
      • Amino acids

        273 to 362

    Associated products

    • Related Products

      • Anti-SCN2A antibody (ab65163)

    Specifications

    Our Abpromise guarantee covers the use of ab114727 in the following tested applications.

    The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.

    • Applications

      ELISA

      SDS-PAGE

      Western blot

    • Form

      Liquid
    • Concentration information loading...

    Preparation and Storage

    • Stability and Storage

      Shipped on dry ice. Upon delivery aliquot and store at -80ºC. Avoid freeze / thaw cycles.

      pH: 8.00
      Constituents: 0.3% Glutathione, 0.79% Tris HCl

    General Info

    • Alternative names

      • HBSC II
      • NAC2
      • Scn2a
      • SCN2A_HUMAN
      • SCN2A1
      • SCN2A2
      • Sodium channel protein brain II subunit alpha
      • Sodium channel protein type 2 subunit alpha
      • Sodium channel protein type II subunit alpha
      • Sodium channel protein, brain II subunit alpha
      • Voltage gated sodium channel subunit alpha Nav1.2
      • Voltage-gated sodium channel subunit alpha Nav1.2
      see all
    • Function

      Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient.
    • Involvement in disease

      Defects in SCN2A are a cause of generalized epilepsy with febrile seizures plus (GEFS+) [MIM:604233]. Generalized epilepsy with febrile seizures-plus refers to a rare autosomal dominant, familial condition with incomplete penetrance and large intrafamilial variability. Patients display febrile seizures persisting sometimes beyond the age of 6 years and/or a variety of afebrile seizure types. GEFS+ is a disease combining febrile seizures, generalized seizures often precipitated by fever at age 6 years or more, and partial seizures, with a variable degree of severity.
      Defects in SCN2A are the cause of benign familial infantile convulsions type 3 (BFIC3) [MIM:607745]. BFIC3 is an autosomal dominant disorder in which afebrile seizures occur in clusters during the first year of life, without neurologic sequelae.
      Defects in SCN2A are the cause of epileptic encephalopathy early infantile type 11 (EIEE11) [MIM:613721]. EIEE11 is an autosomal dominant seizure disorder characterized by infantile onset of refractory seizures with resultant delayed neurologic development and persistent neurologic abnormalities.
    • Sequence similarities

      Belongs to the sodium channel (TC 1.A.1.10) family. Nav1.2/SCN2A subfamily.
      Contains 1 IQ domain.
    • Domain

      The sequence contains 4 internal repeats, each with 5 hydrophobic segments (S1,S2,S3,S5,S6) and one positively charged segment (S4). Segments S4 are probably the voltage-sensors and are characterized by a series of positively charged amino acids at every third position.
    • Post-translational
      modifications

      May be ubiquitinated by NEDD4L; which would promote its endocytosis.
    • Cellular localization

      Membrane.
    • Target information above from: UniProt accession Q99250 The UniProt Consortium
      The Universal Protein Resource (UniProt) in 2010
      Nucleic Acids Res. 38:D142-D148 (2010) .

      Information by UniProt

    Images

    • SDS-PAGE - Recombinant Human SCN2A protein (ab114727)
      SDS-PAGE - Recombinant Human SCN2A protein (ab114727)
      12.5% SDS-PAGE Stained with Coomassie Blue

    Protocols

    To our knowledge, customised protocols are not required for this product. Please try the standard protocols listed below and let us know how you get on.

    Click here to view the general protocols

    Datasheets and documents

    • Datasheet
  • References (0)

    Publishing research using ab114727? Please let us know so that we can cite the reference in this datasheet.

    ab114727 has not yet been referenced specifically in any publications.

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