General transcription factor II-I (GTF2I)

General transcription factor II-I (GTF2I) is a DNA-binding transcription factor characterized by multiple repeat motifs that interact with core elements in gene promoters (such as the initiator and E-box motifs), thereby regulating the transcription of a wide array of genes[1][5][6]. GTF2I participates in the formation of multiprotein complexes with other basal transcription machinery components and functions as a signal-dependent transcriptional regulator involved in cell signaling pathways[6]. Its activity impacts processes such as neural development, synaptic function, and myelination, consistent with its role in neurodevelopmental diseases such as Williams-Beuren syndrome, where GTF2I deletions are a major contributor to the phenotype[2][4]. GTF2I is widely expressed in human tissues, particularly in neural and endocrine systems[3]. Although not itself a direct drug target at present, alterations in its function or expression are implicated in developmental and tumoral pathologies.

Other names

BAP135WBSCR6TFII-IBTK-associated protein 135SPINBTKAP1DIWSIB291Bruton tyrosine kinase-associated protein 135SRF-Phox1-interacting proteinWilliams-Beuren syndrome chromosomal region 6 proteinBAP-135GTFII-IWBSgeneral transcription factor II-I