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]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| GTF2IRD1-20-RE | 20 (40 μL) | 200 μL |  |
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| GTF2IRD1-20-OR | 20 (40 μL) | 200 μL |  |
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| GTF2IRD1-20-GO | 20 (40 μL) | 200 μL |  |
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| GTF2IRD1-20-GR | 20 (40 μL) | 200 μL |  |
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| GTF2IRD1-20-AQ | 20 (40 μL) | 200 μL |  |
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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. [provided by RefSeq, Nov 2010]
Gene Symbol : GTF2IRD1
Gene Name : GTF2I repeat domain containing 1
Chromosome : CHR 7: 744,537,89-746,030,69
Locus : 7q11.23
Alt. Genes : RBM12
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