Cplx4 Gene is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
Gene Symbol: CPLX4
Full Name: Complexin 4
Chromosomal Location: 11q13.2
NCBI Gene ID: 285315
OMIM: 609520
Ensembl ID: ENSG00000177054
UniProt ID: Q8WXD5
Protein Name: Complexin-4
Protein Length: 312 amino acids
Molecular Weight: ~34 kDa
Associated Diseases: Autism spectrum disorder, synaptic transmission disorders, neurodegenerative diseases
The CPLX4 (Complexin 4) gene encodes a neuronal protein that plays a critical role in regulating synaptic vesicle fusion during neurotransmitter release. Complexins are small soluble proteins that bind to the SNARE complex and modulate synaptic transmission in both excitatory and inhibitory synapses. CPLX4 is particularly important in the retina and sensory neurons.
The CPLX4 gene is located on chromosome 11q13.2 and consists of 5 exons spanning approximately 15 kb of genomic DNA. The gene encodes a protein of 312 amino acids with a molecular weight of approximately 34 kDa.
CPLX4 encodes complexin 4, a neuronal protein involved in regulating synaptic vesicle fusion. Complexin 4 plays a critical role in modulating neurotransmitter release by binding to the SNARE complex and regulating the timing and efficiency of synaptic vesicle fusion.
CPLX4 is expressed in various brain regions, with particularly high expression in retina and sensory neurons.
The study of Cplx4 Gene has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.
Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.