靶标:
ARHGEF9
产品别名:
COLLYBISTIN; DEE8; EIEE8; HPEM-2; PEM-2; PEM2; ARHGEF9; Cdc42 guanine nucleotide exchange factor 9; Cdc42 guanine nucleotide exchange factor 9; rho guanine nucleotide exchange factor 9; Cdc42 guanine nucleotide exchange factor (GEF) 9; PEM-2 homolog; hPEM-2 collybistin; rac/Cdc42 guanine nucleotide exchange factor 9;
背景信息:
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],