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ARHGEF9 / Collybistin 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.
Gene Name: | Cdc42 guanine nucleotide exchange factor (GEF) 9 |
Synonyms: | ARHGEF9, ARHDH9, EIEE8, HPEM-2, KIAA0424, PEM-2 homolog, PEM2, COLLYBISTIN, HPEM-2 collybistin, PEM-2 |
Target Sequences: | NM_015185 NP_056000.1 O43307 |
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