GTF2I wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human GTF2I wild-type allele is located in the vicinity of 7q11.23 and is approximately 110 kb in length. This allele, which encodes general transcription factor II-I protein, is involved in the promotion of transcription from the c-Fos serum response element and from the USF1-dependent pyrimidine-rich initiator (Inr) and upstream E-box-type promoter elements. Haploinsufficiency of this gene may be a factor in Williams-Beuren syndrome.

**Synonyms:** - BAP135 - BTK-Associated Protein, 135-kD Gene - BTK-Associated Protein, 135kD Gene - BTKAP1 - DIWS - GTFII-I - General Transcription Factor II, I Gene - General Transcription Factor IIi wt Allele - IB291 - SPIN - TFII-I - WBS - WBSCR6 - Williams-Beuren Syndrome Chromosome Region 6 Gene