Recombinant人SCN2A protein (ab114727)

概述

  • 产品名称Recombinant人SCN2A protein
  • 蛋白长度Protein fragment

描述

  • 性质Recombinant
  • 来源Wheat germ
  • 氨基酸序列
    • AccessionQ99250
    • 种属Human
    • 序列NLRNKCLQWPPDNSSFEINITSFFNNSLDGNGTTFNRTVSIFNWDEYIED KSHFYFLEGQNDALLCGNSSDAGQCPEGYICVKAGRNPNY
    • 分子量36 kDa including tags
    • 氨基酸273 to 362

相关产品

技术指标

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.

  • 应用

    ELISA

    SDS-PAGE

    Western blot

  • 形式Liquid
  • 补充说明Protein concentration is above or equal to 0.05 mg/ml.
    Best used within three months from the date of receipt.
  • Concentration information loading...

制备和贮存

  • 稳定性和存储

    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

常规信息

  • 别名
    • 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
  • 功能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.
  • 疾病相关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.
  • 序列相似性Belongs to the sodium channel (TC 1.A.1.10) family. Nav1.2/SCN2A subfamily.
    Contains 1 IQ domain.
  • 结构域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.
  • 翻译后修饰May be ubiquitinated by NEDD4L; which would promote its endocytosis.
  • 细胞定位Membrane.
  • Information by UniProt

Recombinant Human SCN2A protein 图像

  • 12.5% SDS-PAGE Stained with Coomassie Blue

Recombinant Human SCN2A protein (ab114727)参考文献

ab114727 has not yet been referenced specifically in any publications.

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