製品の概要

  • 製品名
    Recombinant Human SCN2A protein
  • タンパク質長
    Protein fragment

製品の詳細

  • 由来
    Recombinant
  • 由来
    Wheat germ
  • アミノ酸配列
    • アクセッション番号
    • 生物種
      Human
    • 配列
      NLRNKCLQWPPDNSSFEINITSFFNNSLDGNGTTFNRTVSIFNWDEYIED KSHFYFLEGQNDALLCGNSSDAGQCPEGYICVKAGRNPNY
    • 分子量
      36 kDa including tags
    • 領域
      273 to 362

関連製品

特性

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.

  • アプリケーション

    ELISA

    SDS-PAGE

    Western blot

  • 製品の状態
    Liquid
  • 備考
    Protein concentration is above or equal to 0.05 mg/ml.
    Best used within three months from the date of receipt.
  • Concentration information loading...

前処理および保存

  • 保存方法および安定性

    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

関連情報

  • 別名
    • 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
  • 機能
    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.
  • 関連疾患
    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.
  • 配列類似性
    Belongs to the sodium channel (TC 1.A.1.10) family. Nav1.2/SCN2A subfamily.
    Contains 1 IQ domain.
  • ドメイン
    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.
  • 翻訳後修飾
    May be ubiquitinated by NEDD4L; which would promote its endocytosis.
  • 細胞内局在
    Membrane.
  • Information by UniProt

画像

  • 12.5% SDS-PAGE Stained with Coomassie Blue

参考文献

ab114727 has not yet been referenced specifically in any publications.

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Please note: All products are "FOR RESEARCH USE ONLY AND ARE NOT INTENDED FOR DIAGNOSTIC OR THERAPEUTIC USE"

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