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.

Clinical significance

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. Mutations in PRRT2 lead also to hemiplegic migraine.

See also

External links

This article incorporates text from the United States National Library of Medicine, which is in the public domain.