This peptide corresponds to 18 amino acids near the center of human PRRT2.
PEP-1580 can be used as a blocking peptide with polyclonal antibody PA5-34537. For use as a blocking peptide in Western blot, incubate the peptide with equal volume of antibody for 30 min at 37°C.
The proline-rich transmembrane protein 2 (PRRT2) contains a proline-rich domain in its N-terminal half and is predominantly expressed in brain and spinal cord in embryonic and postnatal stages. While little is known of the function of this protein, mutations in PRRT2 have been shown to be the causative gene of paroxysmal kinesigenic dyskinesia, which is characterized by recurrent, brief attacks of abnormal involuntary movements induced by sudden voluntary movements. Recent studies have shown that PRRT2 may also be involved in some forms of benign familial infantile epilepsy (BFIE), an autosomal dominant epilepsy syndrome.
蛋白别名: Dispanin subfamily B member 3; DSPB3; dystonia 10; infantile convulsions and paroxysmal choreoathetosis; interferon induced transmembrane protein domain containing 1; Proline-rich transmembrane protein 2
基因别名: BFIC2; BFIS2; DSPB3; DYT10; EKD1; FICCA; ICCA; IFITMD1; PKC; PRRT2
UniProt ID: (Human) Q7Z6L0
Entrez Gene ID: (Human) 112476