Recombinant human PRRT2 protein
PRRT2 is a transmembrane protein containing a proline-rich domain in its N-terminal half. Studies in mice suggest that it is predominantly expressed in brain and spinal cord in embryonic and postnatal stages. Mutations in this gene are associated with paroxysmal kinesigenic dyskinesia. Almost one third of sporadic PKC patients also carry PRRT2 mutations. Recombinant human PRRT2 protein, fused to His-tag at N-terminus, was expressed in E. coli and purified by using conventional chromatography techniques.
Product Specifications
Product Name Alternative
Proline-rich transmembrane protein 2 isoform 3, BFIC2, BFIS2, DSPB3, DYT10, EKD1, ICCA, IFITMD1, PKC
Expression System
E.coli
Antigen Species
Human
Tag
His-Tag
Applications
SDS-PAGE
Concentration
0.25 mg/mL (determined by Bradford assay)
Purity
> 85% by SDS-PAGE
Molecular Weight
29.7 kDa (291aa) confirmed by MALDI-TOF (Molecular weight on SDS-PAGE will appear higher)
Additionnal Information
References & Citations
Li J, Zhu X, Wang X, et al. (2012) . J Med Genet. 49 (2) :76-8. ; ; Chen WJ, Lin Y, et al. (2011) . Nat Genet. 43 (12) :1252-5.;
Storage Conditions
Can be stored at 2°C to 8°C for 1 week. For long term storage, aliquot and store at -20C to -80C. Avoid repeated freezing and thawing cycles.
Formulation
Liquid in. 20 mM Tris-HCl buffer (pH 8.0) containing 0.15M NaCl, 10% glycerol, 1mM DTT
Scientific Category
Other
NCBI Accession Number
NP_001243372
Uniprot Accession Number
Q7Z6L0
Species
Human
AA Sequence
Frequently Asked Questions
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