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 Episodic Kinesigenic Dyskinesia 1 and Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis. An important paralog of this gene is ENSG00000280893.
UniProtKB/Swiss-Prot for PRRT2 Gene
As a component of the outer core of AMPAR complex, may be involved in synaptic transmission in the central nervous system. In hippocampal neurons, in presynaptic terminals, plays an important role in the final steps of neurotransmitter release, possibly by regulating Ca(2+)-sensing. In the cerebellum, may inhibit SNARE complex formation and downregulate short-term facilitation.