Collybistin, also known as ARHGEF9, is an ~60kD cytoplasmic guanine nucleotide exchange factor. It is expressed in the brain and is upregulated at the onset of neuronal differentiation. Collybistin associates with Neuroligin2, Gephyrin, and GABA receptor subunits to form a complex which is required for GABAergic synaptogenesis as well as hippocampal synaptic plasticity. Mutations in Collybistin are associated with a variety of neurological disorders including epilepsy, anxiety, aggression, mental retardation, and hyperplexia. Human Collybistin contains an SH3 domain (aa867), a DH domain (aa103287), and a Pleckstrin homology domain (aa318426). Within aa390516, human Collybistin shares 97% and 57% aa sequence identity with mouse and rat Collybistin, respectively.
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