GTF2I (AAH04472.1, 36 a.a. ~ 274 a.a) full-length recombinant protein with GST tag. MW of the GST tag alone is 26 KDa.
Alternative Synonym:
BAP135,Bruton tyrosine kinase-associated protein 135,BTKAP1,BTK-associated protein, 135kD,DIWS,general transcription factor II-I,GTFII-I,IB291,SPIN,SRF-Phox1-interacting protein,TFII-I,WBS,WBSCR6,Williams-Beuren syndrome chromosome region 6.
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
