Entrez 112476 | Ensembl ENSG00000167371 | |
Aliases PRRT2, BFIC2, BFIS2, DSPB3, DYT10, EKD1, FICCA, ICCA, IFITMD1, PKC, proline rich transmembrane protein 2 External IDs MGI: 1916267 HomoloGene: 114328 GeneCards: PRRT2 | ||
Proline-rich transmembrane protein 2 is a protein that in humans is encoded by the PRRT2 gene.
Contents
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 paroxysmal kinesigenic dyskinesia. Almost one third of sporadic PKC patients also carry PRRT2 mutations.
References
PRRT2 Wikipedia(Text) CC BY-SA