Aliases for ARHGEF9 Gene
External Ids for ARHGEF9 Gene
Previous GeneCards Identifiers for ARHGEF9 Gene
The protein encoded by this gene is a Rho-like GTPase that switches between the active (GTP-bound) state and inactive (GDP-bound) state to regulate CDC42 and other genes. This brain-specific protein also acts as an adaptor protein for the recruitment of gephyrin and together these proteins facilitate receceptor recruitement in GABAnergic and glycinergic synapses. Defects in this gene are the cause of startle disease with epilepsy (STHEE), also known as hyperekplexia with epilepsy, as well as several other types of cognitive disability. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]
GeneCards Summary for ARHGEF9 Gene
ARHGEF9 (Cdc42 Guanine Nucleotide Exchange Factor 9) is a Protein Coding gene. Diseases associated with ARHGEF9 include Developmental And Epileptic Encephalopathy 8 and X-Linked Intellectual Disability-Epilepsy Syndrome. Among its related pathways are GABA receptor activation and fMLP Pathway. Gene Ontology (GO) annotations related to this gene include Rho guanyl-nucleotide exchange factor activity. An important paralog of this gene is SPATA13.
UniProtKB/Swiss-Prot Summary for ARHGEF9 Gene
Acts as guanine nucleotide exchange factor (GEF) for CDC42. Promotes formation of GPHN clusters (By similarity).