More than 30 different mutations have been identified in ARHGEF9, including micro, partial, and full deletions, missense and nonsense mutations, balanced translocations, paracentric inversions, and splice variants. The ARHGEF9 gene encodes a protein called collybistin, which is a guanine nucleotide exchange factor (GEF), and is known to be localized to subtypes of GABAergic synapses.
ARHGEF9