Immunoprecipitation of GTF2I transfected lysate using anti-GTF2I MaxPab rabbit polyclonal antibody and Protein A Magnetic Bead (U0007), and immunoblotted with GTF2I MaxPab mouse polyclonal antibody (B01) (H00002969-B01).
This gene encodes a multifunctional phosphoprotein with roles in transcription and signal transduction. It is deleted in Williams-Beuren syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at chromosome 7q11.23. Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 7, 13 and 21. [provided by RefSeq
BTK-associated protein, 135kD,Bruton tyrosine kinase-associated protein 135,Williams-Beuren syndrome chromosome region 6