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 |
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OMIM ID | | 300429 |