ARHGEF9
Function
Acts as a guanine nucleotide exchange factor (GEF) for CDC42. Promotes formation of GPHN clusters (By similarity).
Involvement in disease
Developmental and epileptic encephalopathy 8
DEE8
A disorder characterized by hyperekplexia and early infantile epileptic encephalopathy. Neurologic features include exaggerated startle response, seizures, impaired psychomotor development, and intellectual disability. Seizures can be provoked by tactile stimulation or extreme emotion.
None
The disease is caused by variants affecting the gene represented in this entry.
Tissue Specificity
Detected in brain. Detected at low levels in heart.
Cellular localization
- Cytoplasm
- Postsynaptic density
Alternative names
ARHDH9, KIAA0424, ARHGEF9, Rho guanine nucleotide exchange factor 9, Collybistin, PEM-2 homolog, Rac/Cdc42 guanine nucleotide exchange factor 9