WBSCR11 Polyclonal Antibody

General transcription factor II-I repeat domain-containing protein 1 encoded by GTF2IRD1 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. 3. Alternative splicing results in multiple transcript variants.

GTF2IRD1; CREAM1; GTF3; MUSTRD1; RBAP2; WBSCR11; WBSCR12; General transcription factor II-I repeat domain-containing protein 1; GTF2I repeat domain-containing protein 1; General transcription factor I