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.
Dilution rate
IHC: 1/100 - 1/300. ELISA: 1/40000.. IF 1:50-200
Purification process (Immunogen)
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
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.,
Protein name
Rho guanine nucleotide exchange factor 9
Other name
ARHGEF9; ARHDH9; KIAA0424; Rho guanine nucleotide exchange factor 9; Collybistin; PEM-2 homolog; Rac/Cdc42 guanine nucleotide exchange factor 9
Human protein sequence Database
O43307
Mouse protein sequence database
Q3UTH8
Rat protein sequence database
Q9QX73
Cellular localization
Cytoplasm . Cell junction, synapse, postsynaptic density .
Tissue expression
Detected in brain. Detected at low levels in heart.
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