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

PRRT2, Proline-rich transmembrane protein 2 isoform 3, BFIC2, BFIS2, DSPB3, DYT10, EKD1, ICCA, IFITMD1, PKC, ATGP2531-10 µg, ATGP2531-20 µg, ATGP2531-50 µg, ATGP2531-100 µg, ATGP2531-250 µg, ATGP2531-500 µg, ATGP2531-1 mg, ATGP2531-10, ATGP2531-20, ATGP2531-50, ATGP2531-100, ATGP2531-250, ATGP2531-500, ATGP2531-1

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

MAASSSE ISEMKGVEES PKVPGEGPGH SEAETGPPQV LAGVPDQPEA PQPGPNTTAA PVDSGPKAGL APETTETPAG ASETAQATDL SLSPGGESKA NCSPEDPCQE TVSKPEVSKE ATADQGSRLE SAAPPEPAPE PAPQPDPRPD SQPTPKPALQ PELPTQEDPT PEILSESVGE KQENGAVVPL QAGDGEEGPA PEPHSPPSKK SPPANGAPPR VLQQLVEEDR MRRAHSGHPG SPRGSLSRHP SSQLAGPGVE GGEGTQKPRD Y