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.
| Pack Size | 100ul, 1ml, 20ul |
|---|---|
| Applications | ELISA, IF/ICC |
| Host Species | Rabbit |
| Ig Isotype | IgG |
| Antibody Type | Polyclonal Antibody |
| Organism Species | Human |
| Product Synonyms | ARHGEF9 |
| Observed Mol Wt | 61kDa |
| Alternative Names | DEE8; PEM2; EIEE8; PEM-2; HPEM-2; COLLYBISTIN |
| Immunogen (Antigen) | Recombinant protein |
| Format | Liquid |
| Buffer Formulation | 50% glycerol, PBS with 0.05% proclin300, pH7.3 |
| Reactivity | Human |
| Uniprot ID | 23229 |
| Gene ID | O43307 |
| Purification | Antigen-specific affinity chromatography followed by Protein A affinity chromatography |
| Usage | For Research Use Only. Not for diagnostics or human use. |
| Shelf Life | 12 months at time of shipping |
| Shipping | Shipped in Dry Ice at -20 Degree Celsius |
| Storage | Store at -20 Degree Celsius. It is recommended to aliquot and store to avoid repeated freeze-thaw as it affects the stability of the antibody. |
| Research Areas | Cancer; Cell Biology; Immunology |
| KD/KO Validated | KD Validated |
| Disclaimer | The data indicated herein are as indicated and validated in our laboratory. These reagents are for research use only and not for in-vitro diagnostics or human use. |

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