| ncRNA Symbol: | GTF2IRD1 |
| Full Name: | GTF2I repeat domain containing 1 |
| Category: | mRNA |
| Synonyms: | BEN|CREAM1|GTF3|MUSTRD1|RBAP2|WBS|WBSCR11|WBSCR12|hMusTRD1alpha1 |
| Chromosome: | chr7 |
| Strand: | + |
| Coordinate: | | Start Site(bp): | 74453790 | End Site(bp): | 74602604 |
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| 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, Nov 2010] |
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