ARHGEF9( Human )

Entrez Gene 23229 Entrez Gene 23229
Cdc42 guanine nucleotide exchange factor 9

Alias

COLLYBISTIN|EIEE8|HPEM-2|PEM-2|PEM2

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].

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