| Entrez gene ID | | 9569 |
| Official gene symbol | | GTF2IRD1 |
| Full name | | GTF2I repeat domain containing 1 |
| Aliases | | ,BEN,CREAM1,GTF3,MUSTRD1,RBAP2,WBS,WBSCR11,WBSCR12,hMusTRD1alpha1, |
| Gene summary | | 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. [provided by RefSeq] |
| Location | | Chromosome: 7 Locus: 7q11.23 |
| Gene position | | 73868120 - 74016917 Map Viewer |
| Gene orientation | | plus |
| Gene size | | 148798 bp |
| Gene sequence |
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| OMIM ID | | 604318 |
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