Anti-GTF2I/TFII-I (IHC)

GTF2I/TFII-I is a multi-functional transcription factor that interacts with the basal transcription machinery and links upstream cellular signals to responsive activator complexes that associate with the C-FOS promoter and other response elements. Haploinsufficiency of GTF2I/TFII-I results in Williams-Beuren syndrome (WBS), a rare developmental disorder characterized by musculo-skeletal and cardiac abnormalities. Alternate names for GTF2I/TFII-I include general transcription factor II-I, GTFII-I, bruton tyrosine kinase-associated protein 135, BTK-associated protein 135, BAP-135, SRF-Phox1-interacting protein, SPIN, Williams-Beuren syndrome chromosomal region 6 protein, WBSCR6, WBS, DIWS, and IB291.