Overview

  • Product nameRecombinant Human SCN2A protein
  • Protein lengthProtein fragment

Description

  • NatureRecombinant
  • SourceWheat germ
  • Amino Acid Sequence
    • AccessionQ99250
    • SpeciesHuman
    • SequenceNLRNKCLQWPPDNSSFEINITSFFNNSLDGNGTTFNRTVSIFNWDEYIED KSHFYFLEGQNDALLCGNSSDAGQCPEGYICVKAGRNPNY
    • Molecular weight36 kDa including tags
    • Amino acids273 to 362

Associated products

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

  • FormLiquid
  • Additional notesProtein concentration is above or equal to 0.05 mg/ml.
    Best used within three months from the date of receipt.
  • 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
  • FunctionMediates 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 diseaseDefects 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 similaritiesBelongs to the sodium channel (TC 1.A.1.10) family. Nav1.2/SCN2A subfamily.
    Contains 1 IQ domain.
  • DomainThe 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 localizationMembrane.
  • Information by UniProt

Recombinant Human SCN2A protein images

  • 12.5% SDS-PAGE Stained with Coomassie Blue

References for Recombinant Human SCN2A protein (ab114727)

ab114727 has not yet been referenced specifically in any publications.

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