| Description : |
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. |
| Source : |
HEK293 |
| Species : |
Human |
| Tag : |
Myc/DDK |
| Molecular Mass : |
60.8 kDa |
| AA Sequence : |
MTLLITGDSIVSAEAVWDHVTMANR ELAFKAGDVIKVLDASNKDWWWGQI DDEEGWFPASFVRLWVNQEDEVEEG PSDVQNGHLDPNSDCLCLGRPLQNR DQMRANVINEIMSTERHYIKHLKDI CEGYLKQCRKRRDMFSDEQLKVIFG NIEDIYRFQMGFVRDLEKQYNNDDP HLSEIGPCFLEHQDGFWIYSEYCNN HLDACMELSKLMKDSRYQHFFEACR LLQQMIDIAIDGFLLTLVQKICKYP LQLAELLKYTAQDHSDYRYVAAALA VMRNVTQQINERKRRLENIDKIAQW QASVLDWEGEDILDRSSELIYTGEM AWIYQPYGRNQQRVFFLFDHQMVLC KKDLIRRDILYYKGRIDMDKYEVVD IEDGRDDDFNVSMKNAFKLHNKETE EIHLFFAKKLEEKIRWLRAFREERK MVQEDEKIGFEISENQKRQAAMTVR KVPKQKGVNSARSVPPSYPPPQDPL NHGQYLVPDGIAQSQVFEFTEPKRS QSPFWQNFSRLTPFKKTRTRPLEQK LISEEDLAANDILDYKDDDDKV |
| Purity : |
> 80% as determined by SDS-PAGE and Coomassie blue staining |
| Stability : |
Stable for 3 months from receipt of products under proper storage and handling conditions. |
| Storage : |
Store at -80 centigrade. Avoid repeated freeze-thaw cycles. |
| Concentration : |
50 μg/mL as determined by BCA |
| Storage Buffer : |
100 mM glycine, 25 mM Tris-HCl, pH 7.3. |
