CPLX1

Ideogram human chromosome 4

CPLX1

CPLX1 is a gene that encodes a protein known as Complexin-1. This protein is involved in the regulation of neurotransmitter release in the brain. It plays a crucial role in synaptic vesicle exocytosis, which is essential for proper neuronal communication.

Function

Complexin-1, encoded by the CPLX1 gene, is a key player in the fusion of synaptic vesicles with the presynaptic membrane. It acts to modulate the release of neurotransmitters such as dopamine and serotonin in response to neuronal signaling. By interacting with other proteins involved in the exocytosis process, Complexin-1 helps to fine-tune the timing and efficiency of neurotransmitter release.

Clinical Significance

Mutations in the CPLX1 gene have been associated with neurological disorders such as epilepsy and schizophrenia. Dysregulation of neurotransmitter release due to abnormal Complexin-1 function can lead to disruptions in neuronal communication, contributing to the development of these conditions.

Interactions

Complexin-1 interacts with several other proteins involved in synaptic vesicle exocytosis, including SNARE proteins and synaptotagmin. These interactions are crucial for the proper functioning of the neurotransmitter release machinery in the brain.