Human PRRT2 Recombinant Protein (RPPB4298)
- SKU:
- RPPB4298
- Product Type:
- Recombinant Protein
- Species:
- Human
- Uniprot:
- Q7Z6L0
Frequently bought together:
Description
| Product Name: | Human PRRT2 Recombinant Protein |
| Product Code: | RPPB4298 |
| Size: | 10µg |
| Species: | Human |
| Target: | PRRT2 |
| Synonyms: | Proline-Rich Transmembrane Protein 2, Infantile Convulsions And Paroxysmal Choreoathetosis, Dispanin Subfamily B Member 3, DSPB3, BFIC2, BFIS2, DYT10, EKD1, PKC, FICCA, IFITMD1, ICCA. |
| Source: | Escherichia Coli |
| Physical Appearance: | Sterile Filtered clear solution. |
| Formulation: | The PRRT2 solution (0.25mg/ml) contains 20mM Tris-HCl buffer (pH 8.0), 0.15M NaCl, 1mM DTT and 10% glycerol. |
| Stability: | Store at 4°C if entire vial will be used within 2-4 weeks. Store, frozen at -20°C for longer periods of time. For long term storage it is recommended to add a carrier protein (0.1% HSA or BSA).Avoid multiple freeze-thaw cycles. |
| Purity: | Greater than 85% as determined by SDS-PAGE. |
| Amino Acid Sequence: | MGSSHHHHHH SSGLVPRGSH MGSMAASSSE 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 |
Transmembrane protein PRRT2 holds a proline-rich domain in its N-terminal half. PRRT2 is known to be primarily expressed in brain and spinal cord in embryonic and postnatal stages. Alterations in this gene are the cause for paroxysmal kinesigenic dyskinesia. PRRT2 mutations were found in nearly 30% of sporadic PKC patients.
PRRT2 Human Recombinant produced in E.coli is a single, non-glycosylated polypeptide chain containing 291 amino acids (1-268) and having a molecular mass of 29.7 kDa. PRRT2 is fused to a 23 amino acid His-tag at N-terminus.
| UniProt Protein Function: | 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 adulthood 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. |
| UniProt Protein Details: | Protein type:Membrane protein, integral; Membrane protein, multi-pass Chromosomal Location of Human Ortholog: 16p11.2 Cellular Component: integral to membrane; plasma membrane; synapse; cell junction Biological Process: neuromuscular process controlling posture; response to biotic stimulus Disease: Episodic Kinesigenic Dyskinesia 1 |
| NCBI Summary: | 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] |
| UniProt Code: | Q7Z6L0 |
| NCBI GenInfo Identifier: | 156523246 |
| NCBI Gene ID: | 112476 |
| NCBI Accession: | NP_660282.2 |
| UniProt Secondary Accession: | Q7Z6L0,Q8N2N8, Q8NAQ7, Q8ND36, Q96FA8, A8K8M8, |
| UniProt Related Accession: | Q7Z6L0 |
| Molecular Weight: | 30,653 Da |
| NCBI Full Name: | proline-rich transmembrane protein 2 isoform 1 |
| NCBI Synonym Full Names: | proline-rich transmembrane protein 2 |
| NCBI Official Symbol: | PRRT2�� |
| NCBI Official Synonym Symbols: | PKC; EKD1; ICCA; BFIC2; BFIS2; DSPB3; DYT10; FICCA; IFITMD1�� |
| NCBI Protein Information: | proline-rich transmembrane protein 2; dispanin subfamily B member 3; infantile convulsions and paroxysmal choreoathetosis; interferon induced transmembrane protein domain containing 1 |
| UniProt Protein Name: | Proline-rich transmembrane protein 2 |
| UniProt Synonym Protein Names: | Dispanin subfamily B member 3; DSPB3 |
| Protein Family: | Proline-rich transmembrane protein |
| UniProt Gene Name: | PRRT2�� |
| UniProt Entry Name: | PRRT2_HUMAN |
