The protein encoded by this gene contains five GTF2I-like repeats and each repeat possesses a potential helix-loop-helix
(HLH) motif. It may have the ability to interact with other HLH-proteins and function as a transcription factor or as a positive transcriptional regulator under the control of Retinoblastoma protein. This gene is deleted in Williams-Beuren syndrome, a multisystem developmental disorder caused by deletion of multiple genes at 7q11.23. Alternative splicing of this gene generates at least 2 transcript variants.
Applications:
Suitable for use in ELISA, Western Blot, Immunoprecipitation and Immunocytochemistry. Other applications not tested.
Recommended Dilution:
Western Blot: 0.2-2ug/ml
Immunoprecipitation: 100-500ug/sample
Immunocytochemistry: 2-100ug/ml
Optimal dilutions to be determined by the researcher.
Storage and Stability:
May be stored at 4 degrees C for short-term only. Aliquot to avoid repeated freezing and thawing. Store at -20 degrees C. Aliquots are stable for at least 12 months. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.