PRRT2 Polyclonal Antibody

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.

Interferon induced transmembrane protein domain containing 1; BFIC2; BFIS2; Dispanin subfamily B member 3; DSPB3; Dystonia 10; DYT10; EKD1; FICCA; FLJ25513; ICCA; IFITMD1; Infantile convulsions and paroxysmal choreoathetosis; PKC; Proline rich transmembrane protein 2; Proline-rich transmembrane protein 2; PRRT2; PRRT2