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. Defects in this gene are a cause of startle disease with epilepsy (STHEE), also known as hyperekplexia with epilepsy. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010]
GeneCards Summary for ARHGEF9 Gene
ARHGEF9 (Cdc42 Guanine Nucleotide Exchange Factor 9) is a Protein Coding gene. Diseases associated with ARHGEF9 include Epileptic Encephalopathy, Early Infantile, 8 and Arhgef9-Related Hyperekplexia. Among its related pathways are GPCR Pathway and Ligand-gated ion channel transport. GO annotations related to this gene include Rho guanyl-nucleotide exchange factor activity. An important paralog of this gene is SPATA13.
UniProtKB/Swiss-Prot for ARHGEF9 Gene
Acts as guanine nucleotide exchange factor (GEF) for CDC42. Promotes formation of GPHN clusters.