Structural highlights
Disease
[ARHG9_HUMAN] Defects in ARHGEF9 are the cause of pileptic encephalopathy, early infantile, type 8 (EIEE8) [MIM:300607]. A disorder characterized by hyperekplexia and early infantile epileptic encephalopathy. Neurologic features include exaggerated startle response, seizures, impaired psychomotor development, and mental retardation. Seizures can be provoked by tactile stimulation or extreme emotion.[1]
Function
[ARHG9_HUMAN] Acts as guanine nucleotide exchange factor (GEF) for CDC42. Promotes formation of GPHN clusters.[2]
Evolutionary Conservation
Check, as determined by ConSurfDB. You may read the explanation of the method and the full data available from ConSurf.
See Also
References
- ↑ Harvey K, Duguid IC, Alldred MJ, Beatty SE, Ward H, Keep NH, Lingenfelter SE, Pearce BR, Lundgren J, Owen MJ, Smart TG, Luscher B, Rees MI, Harvey RJ. The GDP-GTP exchange factor collybistin: an essential determinant of neuronal gephyrin clustering. J Neurosci. 2004 Jun 23;24(25):5816-26. PMID:15215304 doi:10.1523/JNEUROSCI.1184-04.2004
- ↑ Reid T, Bathoorn A, Ahmadian MR, Collard JG. Identification and characterization of hPEM-2, a guanine nucleotide exchange factor specific for Cdc42. J Biol Chem. 1999 Nov 19;274(47):33587-93. PMID:10559246
