General transcription factor II-I repeat domain-containing protein 1 is a protein that in humans is encoded by the GTF2IRD1 gene.[5][6][7]
Quick Facts Available structures, PDB ...
GTF2IRD1 |
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![](//upload.wikimedia.org/wikipedia/commons/thumb/3/30/Protein_GTF2IRD1_PDB_2d99.png/250px-Protein_GTF2IRD1_PDB_2d99.png) |
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Identifiers |
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Aliases | GTF2IRD1, BEN, CREAM1, GTF3, MUSTRD1, RBAP2, WBS, WBSCR11, WBSCR12, hMusTRD1alpha1, GTF2I repeat domain containing 1 |
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External IDs | OMIM: 604318; MGI: 1861942; HomoloGene: 4158; GeneCards: GTF2IRD1; OMA:GTF2IRD1 - orthologs |
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Wikidata |
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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 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.[7]