Product Name
ARHGEF9, Polyclonal Antibody
Full Product Name
ARHGEF9 Antibody - C-terminal region
Product Gene Name
anti-ARHGEF9 antibody
[Similar Products]
Product Synonym Gene Name
PEM2; EIEE8; PEM-2; HPEM-2; COLLYBISTIN[Similar Products]
Antibody/Peptide Pairs
ARHGEF9 peptide (MBS3245387) is used for blocking the activity of ARHGEF9 antibody (MBS3220585)
Research Use Only
For Research Use Only. Not for use in diagnostic procedures.
Immunogen Sequence
Synthetic peptide located within the following region: VPKQKGVNSA RSVPPSYPPP QDPLNHGQYL VPDGIAQSQV FEFTEPKRSQ
3D Structure
ModBase 3D Structure for O43307
Purity/Purification
Affinity purified
Form/Format
Liquid. Purified antibody supplied in 1x PBS buffer with 0.09% (w/v) sodium azide and 2% sucrose.
Immunogen
The immunogen is a synthetic peptide directed towards the C terminal region of human ARHGEF9
Preparation and Storage
For short term use, store at 2-8 degree C up to 1 week. For long term storage, store at -20 degree C in small aliquots to prevent freeze-thaw cycles.
Other Notes
Small volumes of anti-ARHGEF9 antibody vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.
Related Product Information for
anti-ARHGEF9 antibody
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.
Product Categories/Family for anti-ARHGEF9 antibody
Polyclonal;
Applications Tested/Suitable for anti-ARHGEF9 antibody
Western Blot (WB)
Western Blot (WB) of anti-ARHGEF9 antibody
Host: Rabbit
Target Name: ARHGEF9
Sample Tissue: Human HepG2 Whole Cell
Antibody Dilution: 1.0ug/ml
NCBI/Uniprot data below describe general gene information for ARHGEF9. It may not necessarily be applicable to this product.
NCBI Accession #
NP_001166950.1
[Other Products]
NCBI GenBank Nucleotide #
NM_001173479.1
[Other Products]
UniProt Primary Accession #
O43307
[Other Products]
UniProt Related Accession #
O43307[Other Products]
NCBI Official Full Name
rho guanine nucleotide exchange factor 9 isoform 2
NCBI Official Synonym Full Names
Cdc42 guanine nucleotide exchange factor 9
NCBI Official Symbol
ARHGEF9??[Similar Products]
NCBI Official Synonym Symbols
PEM2; EIEE8; PEM-2; HPEM-2; COLLYBISTIN
??[Similar Products]
NCBI Protein Information
rho guanine nucleotide exchange factor 9
UniProt Protein Name
Rho guanine nucleotide exchange factor 9
UniProt Synonym Protein Names
Collybistin; PEM-2 homolog; Rac/Cdc42 guanine nucleotide exchange factor 9
Protein Family
Rho guanine nucleotide exchange factor
UniProt Gene Name
ARHGEF9??[Similar Products]
UniProt Synonym Gene Names
ARHDH9; KIAA0424??[Similar Products]
UniProt Entry Name
ARHG9_HUMAN
NCBI Summary for 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]
UniProt Comments for ARHGEF9
ARHGEF9: Acts as guanine nucleotide exchange factor (GEF) for CDC42. Promotes formation of GPHN clusters. Defects in ARHGEF9 are the cause of pileptic encephalopathy, early infantile, type 8 (EIEE8). 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. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: GAPs; GAPs, Rac/Rho
Chromosomal Location of Human Ortholog: Xq11.1
Cellular Component: cytoplasm; cytosol
Molecular Function: Rho guanyl-nucleotide exchange factor activity
Biological Process: synaptic transmission; regulation of small GTPase mediated signal transduction; nerve growth factor receptor signaling pathway; positive regulation of apoptosis; small GTPase mediated signal transduction; transmembrane transport
Disease: Epileptic Encephalopathy, Early Infantile, 8
Research Articles on ARHGEF9
1. Autism spectrum disorder patient with the smallest inactivating deletion in the collybistin gene.
Precautions
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Disclaimer
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