PRRT2
Proline-rich transmembrane protein 2 is a protein that in humans is encoded by the PRRT2 gene.Structure and tissue distribution
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 a number of movement disorders, most commonly paroxysmal kinesigenic dyskinesia where approximately 1/3 of cases will harbor mutations in PRRT2. It has also been associated with episodic ataxias, and in particular in combination with various types of epilepsy.
