PRRT2, Recombinant Protein

Proline-rich transmembrane protein 2 isoform 3; BFIC2; BFIS2; DSPB3; DYT10; EKD1; ICCA; IFITMD1; PKC

For Research Use Only. Not for use in diagnostic procedures.

E Coli

> 85% by SDS-PAGE

Liquid. In 20mM Tris-HCl Buffer (pH 8.0) containing 0.15M NaCl, 10% glycerol, 1mM DTT.

0.25 mg/ml (determined by Bradford assay) (lot specific)

Can be stored at 4 degree C short term (1-2 weeks).
For long term storage, aliquot and store at -20 degree C or -70 degree C.
Avoid repeated freezing and thawing cycles.

Small volumes of PRRT2 recombinant protein vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

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.

SDS-PAGE

29.7 kDa (291aa) confirmed by MALDI-TOF (Molecular size on SDS-PAGE will appear higher)

proline rich transmembrane protein 2

proline-rich transmembrane protein 2

Proline-rich transmembrane protein 2

DSPB3  [Similar Products]

This gene encodes 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 episodic kinesigenic dyskinesia-1. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]

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.;

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