General transcription factor II-I repeat domain-containing protein 1 (GTF2IRD1)

General transcription factor II-I repeat domain-containing protein 1 (GTF2IRD1) is a multifunctional transcription factor belonging to the TFII-I family. The protein contains five GTF2I-like repeats, each with a potential helix-loop-helix (HLH) motif, which enables interactions with other HLH proteins and DNA. GTF2IRD1 orchestrates complex developmental gene networks, particularly in craniofacial patterning, cognitive development, and social behaviors. Its loss or reduced dosage is strongly implicated in the neurocognitive and craniofacial features of Williams–Beuren syndrome, a disorder caused by deletions at chromosome 7q11.23. GTF2IRD1 plays additional roles in tissue homeostasis, skeletal muscle fiber type specification, and interacts with chromatin to regulate gene expression, including negative autoregulation of its own promoter. Its function is essential for proper embryonic and postnatal development of the central nervous system and peripheral tissues[1][2][3][5][6].

Other names

CREAM1GTF3MUSTRD1RBAP2WBSCR11WBSCR12MusTRD1BENMuscle TFII-I repeat domain-containing protein 1Slow-muscle-fiber enhancer-binding proteinUSE B1-binding proteinWilliams-Beuren syndrome chromosomal region 11 proteinWilliams-Beuren syndrome chromosomal region 12 proteinhMusTRD1alpha1Binding factor for early enhancerGeneral transcription factor III