CPLX2

Description

The CPLX2 (complexin 2) is a protein-coding gene located on chromosome 5.

Complexin-2 is a protein encoded by the CPLX2 gene in humans. It belongs to the complexin/synaphin gene family and is involved in synaptic vesicle exocytosis. Complexin-2 binds to the SNAP receptor complex, disrupting it and allowing the release of neurotransmitters. Two different transcript variants of CPLX2 have been found, both encoding the same protein.

Complexin-2 regulates the formation of synaptic vesicle clusters at the active zone of the presynaptic membrane in mature neurons. It also promotes the release of various cytoplasmic vesicles, including synaptic vesicles and other secretory vesicles. Additionally, Complexin-2 is involved in mast cell exocytosis.

CPLX2 is also known as 921-L, CPX-2, CPX2, Hfb1.

Associated Diseases

• schizophrenia
• spinocerebellar ataxia type 14
• Huntington disease
• juvenile Huntington disease
• Potocki-Lupski syndrome
• neurodegeneration with brain iron accumulation 2A
• severe neurodegenerative syndrome with lipodystrophy