Target:ARHGEF9
Gene Name:ARHGEF9
Protein Name:Rho guanine nucleotide exchange factor 9
Human Gene Id:23229
Human Swiss Prot No:O43307
Mouse Gene Id:236915
Mouse Swiss Prot No:Q3UTH8
Rat Gene Id:66013
Rat Swiss Prot No:Q9QX73
Immunogen:The antiserum was produced against synthesized peptide derived from human ARHGEF9. AA range:399-448
Specificity:ARHGEF9 Polyclonal Antibody detects endogenous levels of ARHGEF9 protein.
Formulation:Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
Source:Polyclonal, Rabbit,IgG
Dilution:IHC 1:100 - 1:300. ELISA: 1:40000.. IF 1:50-200
Purification:The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
Concentration:1 mg/ml
Storage Stability:-15°C to -25°C/1 year(Do not lower than -25°C)
Other Name:ARHGEF9;ARHDH9;KIAA0424;Rho guanine nucleotide exchange factor 9;Collybistin;PEM-2 homolog;Rac/Cdc42 guanine nucleotide exchange factor 9
Molecular Weight(Da):61kD
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. Defects in this gene are a cause of startle disease with epilepsy (STHEE), also known as hyperekplexia with epilepsy. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010],
Function:disease:Defects in ARHGEF9 are a cause of startle disease with epilepsy (STHEE) [MIM:300607]; also known as hyperekplexia with epilepsy. Startle disease is a genetically heterogeneous neurologic disorder. STHE is characterized by muscular rigidity of central nervous system origin, particularly in the neonatal period, and by an exaggerated startle response to unexpected acoustic or tactile stimuli.,function:Acts as guanine nucleotide exchange factor (GEF) for CDC42. Promotes formation of GPHN clusters.,similarity:Contains 1 DH (DBL-homology) domain.,similarity:Contains 1 PH domain.,similarity:Contains 1 SH3 domain.,subunit:Interacts with GPHN.,tissue specificity:Detected in brain. Detected at low levels in heart.,
Subcellular Location:Cytoplasm . Cell junction, synapse, postsynaptic density .
Expression:Detected in brain. Detected at low levels in heart.