GTF2IRD1 encodes a transcription factor that plays critical roles in neurodevelopment and is one of 25-27 genes deleted in Williams syndrome (WS) 1. The protein functions as a DNA-binding transcription regulator, with binding sites enriched at promoters and chr7 regulatory regions in the developing brain 2. GTF2IRD1 specifically binds to and regulates the expression of transthyretin (TTR), which activates ERK signaling pathways essential for proper neural progenitor cell proliferation, differentiation, and synapse formation 3. In WS pathogenesis, GTF2IRD1 haploinsufficiency contributes significantly to intellectual disability, social functioning deficits, and anxiety through multiple mechanisms 14. The gene regulates auditory processing by controlling VIPR1 expression in auditory cortex interneurons, with its deletion leading to enhanced frequency discrimination abilities characteristic of WS 5. Loss of GTF2IRD1 function also contributes to motor coordination deficits and increased ventricular volume in mouse models 6. Clinically, GTF2IRD1 serves as a key determinant of WS neuropsychological phenotype severity, and its expression patterns may influence tumor progression in growth hormone-secreting pituitary adenomas 7.