GTF2I Repeat Domain Containing Protein 1 (GTF2IRD1)

GTF2IRD1 contains five GTF2I-like repeats and each repeat possesses a potential helix-loop-helix (HLH) motif. This gene is deleted in Williams-Beuren syndrome, a multisystem developmental disorder caused by deletion of multiple genes at 7q11.23. Alternative splicing of this gene generates at least 2 transcript variants.

GTF2IRD1 is a genetic determinant of mammalian craniofacial and cognitive development. Gtf2ird1-null mice exhibited phenotypic abnormalities reminiscent of the human microdeletion disorder Williams-Beuren syndrome; craniofacial imaging revealed abnormalities in both skull and jaws that may arise through misregulation of goosecoid, a downstream target of Gtf2ird1.