PRRT2

Proline-rich transmembrane protein 2 is a is_associated_with::protein that in humans is encoded by the PRRT2 is_associated_with::gene.

Structure and tissue distribution
This gene encodes a is_associated_with::transmembrane protein containing a is_associated_with::proline-rich domain in its is_associated_with::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 paroxysmal kinesigenic dyskinesia. Almost one third of sporadic PKC patients also carry PRRT2 mutations.