ARHGEF9

protein-coding External Resolution
GeneCards NCBI PubMed

External Info (via mygene)

SymbolARHGEF9
NameCdc42 guanine nucleotide exchange factor 9
Typeprotein-coding
Sourcemygene

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. This brain-specific protein also acts as an adaptor protein for the recruitment of gephyrin and together these proteins facilitate receceptor recruitement in GABAnergic and glycinergic synapses. Defects in this gene are the cause of startle disease with epilepsy (STHEE), also known as hyperekplexia with epilepsy, as well as sev

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