Recombinant Human SCN2A protein (ab114727)
Key features and details
- Expression system: Wheat germ
- Suitable for: ELISA, SDS-PAGE, WB
製品の詳細
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製品名
Recombinant Human SCN2A protein -
発現系
Wheat germ -
アクセッション番号
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タンパク質長
Protein fragment -
Animal free
No -
由来
Recombinant -
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生物種
Human -
配列
NLRNKCLQWPPDNSSFEINITSFFNNSLDGNGTTFNRTVSIFNWDEYIED KSHFYFLEGQNDALLCGNSSDAGQCPEGYICVKAGRNPNY -
予測される分子量
36 kDa including tags -
領域
273 to 362
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関連製品
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Related Products
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.
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アプリケーション
ELISA
SDS-PAGE
Western blot
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製品の状態
Liquid -
Concentration information loading...
前処理および保存
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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
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別名
- HBSC II
- NAC2
- Scn2a
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
プロトコール
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.
データシートおよび資料
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Datasheet download
参考文献 (0)
ab114727 は論文での使用が確認できていません。