Proline-rich transmembrane protein 2 (Prrt2), Recombinant Protein

Recombinant Proline-rich transmembrane protein 2 (Prrt2); Proline-rich transmembrane protein 2

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

Chromosome: 7; NC_000073.6 (127017542..127021211, complement). Location: 7 F3; 7

E Coli or Yeast or Baculovirus or Mammalian Cell

>=90% (lot specific)

Liquid containing glycerol

This protein contains an N-terminal tag and may also contain a C-terminal tag. Tag types are determined by various factors including tag-protein stability, please inquire for tag information.

Sterile filter available upon request.

Low endotoxin available upon request.

Store at -20 degree C. For extended storage, store at -20 or -80 degree C.

Manufactured in an ISO 13485:2003 and EN ISO 13485:2012 Certified Laboratory.

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.

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PRRT2_MOUSE

PRRT2: Defects in PRRT2 are the cause of episodic kinesigenic dyskinesia type 1 (EKD1). An autosomal dominant neurologic condition characterized by recurrent and brief attacks of abnormal involuntary movements, triggered by sudden voluntary movement. These attacks usually have onset during childhood or early *****hood and can involve dystonic postures, chorea, or athetosis. Disease-causing mutations that produce truncation of the C-terminus of the protein alter subcellular location, from plasma membrane to cytosplasm (PubMed:22101681). Defects in PRRT2 are the cause of convulsions, familial infantile, with paroxysmal choreoathetosis (ICCA). A syndrome characterized by clinical features of benign familial infantile seizures and episodic kinesigenic dyskinesia. Benign familial infantile seizures is a disorder characterized by afebrile seizures occurring during the first year of life, without neurologic sequelae. Paroxysmal choreoathetosis is a disorder of involuntary movements characterized by attacks that occur spontaneously or are induced by a variety of stimuli. Defects in PRRT2 are the cause of seizures, benign familial infantile type 2 (BFIS2). An autosomal dominant disorder in which afebrile seizures occur in clusters during the first year of life, without neurologic sequelae. Belongs to the CD225/Dispanin family. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: Membrane protein, integral; Membrane protein, multi-pass

Cellular Component: membrane; plasma membrane; integral to membrane; synapse; cell junction

Biological Process: neuromuscular process controlling posture; response to biotic stimulus

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