PRRT2 Proteins

Protein Information

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.

Synonyms

1500031I19Rik; AI195361; BFIC2; BFIS2; Dispanin subfamily B member 3; DSPB3; dystonia 10; DYT10; EKD1; FICCA; ICCA; IFITMD1; infantile convulsions and paroxysmal choreoathetosis; interferon induced transmembrane protein domain containing 1; PKC; proline rich transmembrane protein 2; proline-rich transmembrane protein 2; PRRT2; RGD1564195