Mouse Anti-ARHGEF9 Recombinant Antibody (161B11) (CBMAB-C1077-CN)

This product is a Mouse antibody that recognizes ARHGEF9. The antibody 161B11 can be used for immunoassay techniques such as: WB.
See all ARHGEF9 antibodies

Datasheet

Summary

Host Animal

Mouse

Specificity

Rat, Mouse

Clone

161B11

Antibody Isotype

IgG2a

Application

Basic Information

Specificity

Rat, Mouse

Antibody Isotype

IgG2a

Clonality

Monoclonal

Application Notes

The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

Formulations & Storage [For reference only, actual COA shall prevail!]

Format

Lyophilized

Preservative

0.02% sodium azide

Target

Full Name

Cdc42 Guanine Nucleotide Exchange Factor 9

Introduction

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]

Entrez Gene ID

Mouse	236915
Rat	66013

UniProt ID

Mouse	Q3UTH8
Rat	Q9QX73

Alternative Names

Cdc42 Guanine Nucleotide Exchange Factor 9; Collybistin; Cdc42 Guanine Nucleotide Exchange Factor (GEF) 9; Rac/Cdc42 Guanine Nucleotide Exchange Factor 9; PEM-2 Homolog; Rho Guanine Nucleotide Exchange Factor 9; HPEM-2 Collybistin;

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.

References

Ghesh, L., Besnard, T., Nizon, M., Trochu, E., Landeau‐Trottier, G., Breheret, F., ... & Cogné, B. (2021). Loss‐of‐function variants in ARHGEF9 are associated with an X‐linked intellectual disability dominant disorder. Human Mutation, 42(5), 498-505.

Yao, R., Zhang, Y., Liu, J., Wang, J., Xu, Y., Li, N., ... & Yu, T. (2020). Clinical and molecular characterization of three novel ARHGEF9 mutations in patients with developmental delay and epilepsy. Journal of Molecular Neuroscience, 1-8.

Wang, J. Y., Zhou, P., Wang, J., Tang, B., Su, T., Liu, X. R., ... & Liao, W. P. (2018). ARHGEF9 mutations in epileptic encephalopathy/intellectual disability: toward understanding the mechanism underlying phenotypic variation. Neurogenetics, 19(1), 9-16.

Ibaraki, K., Mizuno, M., Aoki, H., Niwa, A., Iwamoto, I., Hara, A., ... & Nagata, K. I. (2018). Biochemical and morphological characterization of a guanine nucleotide exchange factor ARHGEF9 in mouse tissues. Acta histochemica et cytochemica, 51(3), 119-128.

Striano, P., & Zara, F. (2017). ARHGEF9 mutations cause a specific recognizable X-linked intellectual disability syndrome.

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Protocols

Please try the standard protocols which include: protocols, troubleshooting and guide.

Enzyme-linked Immunosorbent Assay (ELISA)
Flow Cytometry
Immunofluorescence (IF)
Immunohistochemistry (IHC)
Immunoprecipitation (IP)
Western Blot (WB)
Enzyme Linked Immunospot (ELISpot)
Proteogenomic
Other Protocols

Associated Products

Related Products

Mouse Anti-ARHGEF9 Recombinant Antibody (3C11)

Mouse Anti-ARHGEF9 Recombinant Antibody (CBYY-C3173)

Isotype control

For research use only. Not intended for any clinical use.

Custom Antibody Labeling

We also offer labeled antibodies developed using our catalog antibody products and nonfluorescent conjugates (HRP, AP, Biotin, etc.) or fluorescent conjugates (Alexa Fluor, FITC, TRITC, Rhodamine, Texas Red, R-PE, APC, Qdot Probes, Pacific Dyes, etc.).

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