CPLX1
Function
Positively regulates a late step in exocytosis of various cytoplasmic vesicles, such as synaptic vesicles and other secretory vesicles (PubMed:21785414). Organizes the SNAREs into a cross-linked zigzag topology that, when interposed between the vesicle and plasma membranes, is incompatible with fusion, thereby preventing SNAREs from releasing neurotransmitters until an action potential arrives at the synapse (PubMed:21785414). Also involved in glucose-induced secretion of insulin by pancreatic beta-cells. Essential for motor behavior.
Involvement in disease
Developmental and epileptic encephalopathy 63
DEE63
A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE63 is an autosomal recessive disease with onset in infancy.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the complexin/synaphin family.
Tissue Specificity
Nervous system. In hippocampus and cerebellum, expressed mainly by inhibitory neurons. Overexpressed in substantia nigra from patients with Parkinson disease.
Cellular localization
- Cytoplasm
- Cytosol
- Perikaryon
- Presynapse
- Enriched at synaptic-releasing sites in mature neurons.
Alternative names
Complexin-1, Complexin I, Synaphin-2, CPX I, CPLX1