Recombinant Human Rho guanine nucleotide exchange factor 9 (ARHGEF9)

Uniprot Id

O43307

Target Species

Human

Target Name

ARHGEF9

Target Full Name

Rho guanine nucleotide exchange factor 9

Target Function

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

Target Involvement

Epileptic encephalopathy, early infantile, 8 (EIEE8)

Target Subcellular Location

Cytoplasm. Cell junction, synapse, postsynaptic density.

Target Tissue Specificity

Detected in brain. Detected at low levels in heart.

Target Synonyms

9630036L12Rik; A230067K14; ARHG9_HUMAN; Arhgef9; Cdc42 guanine nucleotide exchange factor (GEF) 9; Collybistin; collybistin I; EIEE8; HPEM 2; hPEM-2 collybistin; KIAA0424; mKIAA0424; OTTHUMP00000023424; OTTHUMP00000023425; OTTHUMP00000023427; PEM 2; PEM 2 homolog ; PEM-2 homolog; PEM2; Rac/Cdc42 guanine nucleotide exchange factor 9; Rho guanine nucleotide exchange factor 9; RP11 357C3.4; RP23 230K20.3

Target Background

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.