Aliases for PRRT2 Gene
External Ids for PRRT2 Gene
Previous HGNC Symbols for PRRT2 Gene
Previous GeneCards Identifiers for PRRT2 Gene
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 episodic kinesigenic dyskinesia-1. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
GeneCards Summary for PRRT2 Gene
PRRT2 (Proline Rich Transmembrane Protein 2) is a Protein Coding gene. Diseases associated with PRRT2 include Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis and Seizures, Benign Familial Infantile, 2. An important paralog of this gene is ENSG00000280893.