PRRT2
PRRT2 (proline-rich transmembrane protein 2) is a transmembrane protein of the CD225/Dispanin family that is thought to contribute to synaptic transmission in the central nervous system. It is also known as FICCA, ICCA, EKD1, DYT10, DSPB3 and IFITMD1. Browse Assay Genie's current range of PRRT2 research reagents below, or read on for the biology behind the target.
PRRT2 is a component of the outer core of the AMPAR complex and may be involved in synaptic transmission in the central nervous system. In hippocampal neurons, it acts in presynaptic terminals and plays an important role in the final steps of neurotransmitter release, possibly by regulating Ca(2+)-sensing. In the cerebellum, it may inhibit SNARE complex formation and down-regulate short-term facilitation.
The PRRT2 gene encodes a transmembrane protein with a proline-rich domain in its N-terminal half. The protein belongs to the CD225/Dispanin family, and HGNC places it in the Dispanins gene group. UniProt records it at the cell membrane, including the presynaptic membrane, the synaptic vesicle membrane, the postsynaptic density membrane, axons and dendritic spines. Studies in mice suggest that it is predominantly expressed in brain and spinal cord during embryonic and postnatal stages. Mouse and rat orthologs are both designated Prrt2. Alternatively spliced transcript variants encoding different isoforms have been reported for this gene.
Mutations in the PRRT2 gene are associated with episodic kinesigenic dyskinesia-1. The earlier names recorded by HGNC, infantile convulsions and paroxysmal choreoathetosis and dystonia 10, reflect this clinical association, and they explain the symbols ICCA, FICCA, EKD1 and DYT10. This makes PRRT2 a useful target for researchers studying synaptic function and paroxysmal neurological disorders.
PRRT2 is a component of the outer core of the AMPAR complex and may be involved in synaptic transmission in the central nervous system.
In hippocampal presynaptic terminals, PRRT2 plays an important role in the final steps of neurotransmitter release, possibly by regulating Ca(2+)-sensing.
In the cerebellum, PRRT2 may inhibit SNARE complex formation and down-regulate short-term facilitation.
Mutations in the PRRT2 gene are associated with episodic kinesigenic dyskinesia-1, making it relevant to studies of dyskinesia.
PRRT2 is a component of the outer core of the AMPAR complex and may be involved in synaptic transmission in the central nervous system. In hippocampal presynaptic terminals it contributes to the final steps of neurotransmitter release, possibly by regulating Ca(2+)-sensing.
PRRT2 is also known as FICCA, ICCA, EKD1, DYT10, DSPB3, IFITMD1, PKC, FLJ25513 and DKFZp547J199. Earlier HGNC names include infantile convulsions and paroxysmal choreoathetosis, and dystonia 10. Alternatively spliced transcript variants encoding different isoforms have been described for the gene.
Mutations in the PRRT2 gene are associated with episodic kinesigenic dyskinesia-1. Orthologs exist in mouse and rat, both named Prrt2, and mouse studies suggest predominant expression in brain and spinal cord. Check the datasheet of any product for its validated reactivity.
Other synaptic proteins, SNARE complex components and AMPA receptor subunits relevant to neurotransmitter release research.
Gene and protein annotations from HGNC, NCBI Gene and UniProt Q7Z6L0; product specifications from Assay Genie datasheets.