Immunoprecipitation of GTF2IRD1 transfected lysate using anti-GTF2IRD1 MaxPab rabbit polyclonal antibody and Protein A Magnetic Bead (U0007), and immunoblotted with GTF2IRD1 purified MaxPab mouse polyclonal antibody (B01P) (H00009569-B01P).
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. [provided by RefSeq
GTF2I repeat domain-containing 1,Williams-Beuren syndrome chromosome region 11,binding factor for early enhancer,general transcription factor 3,muscle TFII-I repeat domain-containing protein 1 alpha 1