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ARHGEF9

Official Full Name
Cdc42 guanine nucleotide exchange factor (GEF) 9
Background
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]
Synonyms
ARHGEF9; Cdc42 guanine nucleotide exchange factor (GEF) 9; PEM2; EIEE8; PEM-2; HPEM-2; COLLYBISTIN; rho guanine nucleotide exchange factor 9; PEM-2 homolog; hPEM-2 collybistin; rac/Cdc42 guanine nucleotide exchange factor 9; KIAA0424; PEM 2

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