Species Human Entrez 9569 | Human Mouse Ensembl ENSG00000006704 | |
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Aliases GTF2IRD1, BEN, CREAM1, GTF3, MUSTRD1, RBAP2, WBS, WBSCR11, WBSCR12, hMusTRD1alpha1, GTF2I repeat domain containing 1 External IDs MGI: 1861942 HomoloGene: 4158 GeneCards: GTF2IRD1 | ||
General transcription factor II-I repeat domain-containing protein 1 is a protein that in humans is encoded by the GTF2IRD1 gene.
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 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.
References
GTF2IRD1 Wikipedia(Text) CC BY-SA