ARHGEF9, Official Symbol ARHGEF9provided by HGNC Official Full Name Cdc42 guanine nucleotide exchange factor 9provided by HGNC Primary source HGNC:HGNC:14561 See related Ensembl:ENSG00000131089 MIM:300429; AllianceGenome:HGNC:14561 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DEE8; PEM2; EIEE8; PEM-2; HPEM-2; COLLYBISTIN 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 several other types of cognitive disability. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017] Expression Ubiquitous expression in brain (RPKM 18.5), heart (RPKM 6.1) and 21 other tissues See more Orthologs mouse all