| Entrez gene ID | | 23229 |
| Official gene symbol | | ARHGEF9 |
| Full name | | Cdc42 guanine nucleotide exchange factor (GEF) 9 |
| Aliases | | ,COLLYBISTIN,HPEM-2,KIAA0424,PEM-2,PEM2, |
| Gene summary | | 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. |
| Location | | Chromosome: X Locus: Xq11.1 |
| Gene position | | 63005426 - 62854848 Map Viewer |
| Gene orientation | | minus |
| Gene size | | 150579 bp |
| Gene sequence |
| |
| OMIM ID | | 300429 |