ARHGEF9

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]

Full Name

Cdc42 Guanine Nucleotide Exchange Factor 9

Function

Acts as guanine nucleotide exchange factor (GEF) for CDC42. Promotes formation of GPHN clusters (By similarity).

Biological Process

G protein-coupled receptor signaling pathway Source: Reactome
Positive regulation of apoptotic process Source: Reactome
Regulation of small GTPase mediated signal transduction Source: Reactome

Cellular Location

Cytoplasm; Postsynaptic density

Involvement in disease

Developmental and epileptic encephalopathy 8 (DEE8): 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.