ARHGEF9 Peptide - N-Terminal Region Blocking Peptide

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 several other types of cognitive disability. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]

ARHGEF9: Acts as guanine nucleotide exchange factor (GEF) for CDC42. Promotes formation of GPHN clusters. Defects in ARHGEF9 are the cause of pileptic encephalopathy, early infantile, type 8 (EIEE8). A disorder characterized by hyperekplexia and early infantile epileptic encephalopathy. Neurologic features include exaggerated startle response, seizures, impaired psychomotor development, and mental retardation. Seizures can be provoked by tactile stimulation or extreme emotion. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: GAPs; GAPs, Rac/Rho

Chromosomal Location of Human Ortholog: Xq11.1

Cellular Component: cytoplasm; cytosol

Molecular Function: Rho guanyl-nucleotide exchange factor activity

Biological Process: synaptic transmission; regulation of small GTPase mediated signal transduction; nerve growth factor receptor signaling pathway; positive regulation of apoptosis; small GTPase mediated signal transduction; transmembrane transport

Disease: Epileptic Encephalopathy, Early Infantile, 8