PRRT2
Function
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 down-regulate short-term facilitation.
Involvement in disease
Episodic kinesigenic dyskinesia 1
EKD1
An autosomal dominant form of paroxysmal kinesigenic dyskinesia, a neurologic condition characterized by recurrent and brief attacks of abnormal involuntary movements, triggered by sudden voluntary movement. These attacks usually have onset during childhood or early adulthood and can involve dystonic postures, chorea, or athetosis.
None
The disease is caused by variants affecting the gene represented in this entry. Disease-causing mutations that produce truncation of the C-terminus of the protein alter subcellular location, from plasma membrane to cytoplasm (PubMed:22101681).
Convulsions, familial infantile, with paroxysmal choreoathetosis
ICCA
A syndrome characterized by clinical features of benign familial infantile seizures and episodic kinesigenic dyskinesia. Benign familial infantile seizures is a disorder characterized by afebrile seizures occurring during the first year of life, without neurologic sequelae. Paroxysmal choreoathetosis is a disorder of involuntary movements characterized by attacks that occur spontaneously or are induced by a variety of stimuli.
None
The disease is caused by variants affecting the gene represented in this entry.
Seizures, benign familial infantile, 2
BFIS2
A form of benign familial infantile epilepsy, a neurologic disorder characterized by afebrile seizures occurring in clusters during the first year of life, without neurologic sequelae. BFIS2 inheritance is autosomal dominant.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the CD225/Dispanin family.
Cellular localization
- Cell membrane
- Single-pass membrane protein
- Presynaptic cell membrane
- Single-pass membrane protein
- Synapse
- Cell projection
- Axon
- Cytoplasmic vesicle
- Secretory vesicle
- Synaptic vesicle membrane
- Postsynaptic density membrane
- Cell projection
- Dendritic spine
Alternative names
Proline-rich transmembrane protein 2, Dispanin subfamily B member 3, DSPB3, PRRT2