Arhgef9 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 | ARHGEF9 |
| Gene Name | Rho Guanine Nucleotide Exchange Factor 9 |
| Chromosome | Xq11.1 |
| NCBI Gene ID | 23226 |
| OMIM | 300429 |
| Ensembl ID | ENSG00000133241 |
| UniProt | O94813 |
| Associated Diseases | Epileptic Encephalopathy |
ARHGEF9 (collybistin) is a Cdc42 GEF that regulates GABAergic synapse formation. It is critical for gephyrin clustering and inhibitory synaptic transmission.
The ARHGEF9 gene encodes Rho Guanine Nucleotide Exchange Factor 9, a protein involved in neuronal function and survival. This gene product plays important roles in the nervous system and has been implicated in various neurodegenerative and neurodevelopmental disorders.
['Epileptic Encephalopathy'] are associated with mutations in ARHGEF9. Further research is ongoing to understand the precise molecular mechanisms linking ARHGEF9 to these conditions.
ARHGEF9 is expressed in various brain regions, with particularly high expression in areas relevant to motor control, cognition, and sensory processing. Expression patterns may vary during development and in disease states.
This page was created as part of the NeuroWiki gene page creation effort.
The study of Arhgef9 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.