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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 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.
Gene Name: | GTF2I repeat domain containing 1 |
Synonyms: | GTF2IRD1, BEN, CREAM1, General transcription factor 3, GTF3, MUSTRD1, USE B1-binding protein, WBSCR12, RBAP2, WBS, HMusTRD1alpha1, WBSCR11 |
Target Sequences: | NM_016328 NP_057412.1 Q9UHL9 |
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