2ysq
Solution structure of the SH3 domain from Rho guanine nucleotide exchange factor 9Solution structure of the SH3 domain from Rho guanine nucleotide exchange factor 9
Structural highlights
DiseaseARHG9_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] FunctionARHG9_HUMAN Acts as guanine nucleotide exchange factor (GEF) for CDC42. Promotes formation of GPHN clusters.[2] Evolutionary ConservationCheck, as determined by ConSurfDB. You may read the explanation of the method and the full data available from ConSurf. See AlsoReferences
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