CPLX1

Description

The CPLX1 (complexin 1) is a protein-coding gene located on chromosome 4.

Complexin-1 is a protein encoded by the CPLX1 gene in humans. It is a cytosolic protein involved in synaptic vesicle exocytosis. Complexin-1 binds to the SNAP receptor complex, disrupting it and allowing the release of neurotransmitters. It interacts with SNAP-25 and STX1A.

Complexin-1 plays a crucial role in the final stages of exocytosis, regulating the release of various cytoplasmic vesicles, including synaptic vesicles and secretory vesicles. It acts by organizing SNARE proteins into a cross-linked zigzag structure, which prevents premature fusion between the vesicle and plasma membranes. This ensures that neurotransmitter release is triggered only when an action potential arrives at the synapse. Complexin-1 is also involved in insulin secretion from pancreatic beta cells in response to glucose and is essential for normal motor behavior.

CPLX1 is also known as CPX-I, CPX1, DEE63, EIEE63.

Associated Diseases

• Wolf-Hirschhorn syndrome
• Familial infantile myoclonic epilepsy
• Epileptic encephalopathy, early infantile, 63