Search results for abx005071

GTF2I Repeat Domain Containing 1 (GTF2IRD1) Antibody, Abbexa, abx005071

GTF2IRD1 Antibody is a Rabbit Polyclonal antibody against GTF2IRD1. The protein encoded by this gene contains five GTF2I-like repeats and each repeat possesses a potential helix-loop-helix (HLH) motif. It may have the ability to interact with other HLH-proteins and function as a transcription factor or as a positive transcriptional regulator under the control of Retinoblastoma protein. This gene plays a role in craniofacial and cognitive development and mutations have been associated with Williams-Beuren syndrome, a multisystem developmental disorder caused by deletion of multiple genes at 7q11.23. Alternative splicing results in multiple transcript variants.