CPLX1

CPLX1 (Complexin 1) is a Protein Coding gene. Diseases associated with CPLX1 include Myoclonic Epilepsy, Familial Infantile and Chromosome 4P Deletion. Among its related pathways are Transmission across Chemical Synapses and Neurotransmitter Release Cycle. Gene Ontology (GO) annotations related to this gene include syntaxin binding and syntaxin-1 binding. An important paralog of this gene is CPLX2.

Full Name

Complexin 1

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.

Biological Process

Chemical synaptic transmission Source: ProtInc
Exocytic insertion of neurotransmitter receptor to postsynaptic membrane Source: Ensembl
Exocytosis Source: ProtInc
Insulin secretion Source: Ensembl
Neurotransmitter secretion Source: Reactome
Neurotransmitter transport Source: Reactome
Regulation of exocytosis Source: ParkinsonsUK-UCL
Regulation of neurotransmitter secretion Source: GO_Central
Regulation of synaptic vesicle fusion to presynaptic active zone membrane Source: Ensembl
Synaptic vesicle exocytosis Source: GO_Central

Cellular Location

Cytosol; Perikaryon; Presynapse. Enriched at synaptic-releasing sites in mature neurons.

Involvement in disease

Developmental and epileptic encephalopathy 63 (DEE63):
A form of epileptic encephalopathy, a heterogeneous group of severe childhood 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.