Recombinant Human SCN2A protein (ab114727)
Key features and details
- Expression system: Wheat germ
- Suitable for: ELISA, SDS-PAGE, WB
Description
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Product name
Recombinant Human SCN2A protein -
Expression system
Wheat germ -
Accession
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Protein length
Protein fragment -
Animal free
No -
Nature
Recombinant -
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Species
Human -
Sequence
NLRNKCLQWPPDNSSFEINITSFFNNSLDGNGTTFNRTVSIFNWDEYIED KSHFYFLEGQNDALLCGNSSDAGQCPEGYICVKAGRNPNY -
Predicted molecular weight
36 kDa including tags -
Amino acids
273 to 362
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Associated products
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Related 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.
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Applications
ELISA
SDS-PAGE
Western blot
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Form
Liquid -
Concentration information loading...
Preparation and Storage
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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
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Alternative names
- HBSC II
- NAC2
- Scn2a
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
modificationsMay be ubiquitinated by NEDD4L; which would promote its endocytosis. -
Cellular localization
Membrane. - Information by UniProt
Images
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.
Datasheets and documents
References (0)
ab114727 has not yet been referenced specifically in any publications.