ARHGEF9 Polyclonal Antibody

disease:Defects in ARHGEF9 are a cause of startle disease with epilepsy (STHEE) [MIM:300607]; also known as hyperekplexia with epilepsy. Startle disease is a genetically heterogeneous neurologic disorder. STHE is characterized by muscular rigidity of central nervous system origin, particularly in the neonatal period, and by an exaggerated startle response to unexpected acoustic or tactile stimuli.,function:Acts as guanine nucleotide exchange factor (GEF) for CDC42. Promotes formation of GPHN clusters.,similarity:Contains 1 DH (DBL-homology) domain.,similarity:Contains 1 PH domain.,similarity:Contains 1 SH3 domain.,subunit:Interacts with GPHN.,tissue specificity:Detected in brain. Detected at low levels in heart.,