This gene is one of several closely related genes on chromosome 7 encoding proteins containing helix-loop-helix motifs. These proteins may function as regulators of transcription. The encoded protein is unique in that its C-terminus is derived from CHARLIE8 transposable element sequence. This gene is located in a region of chromosome 7 that is deleted in Williams-Beuren syndrome, and loss of this locus may contribute to the cognitive phenotypes observed in this disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| GTF2IRD2-20-RE | 20 (40 μL) | 200 μL |  |
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| GTF2IRD2-20-OR | 20 (40 μL) | 200 μL |  |
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| GTF2IRD2-20-GO | 20 (40 μL) | 200 μL |  |
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| GTF2IRD2-20-GR | 20 (40 μL) | 200 μL |  |
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| GTF2IRD2-20-AQ | 20 (40 μL) | 200 μL |  |
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This gene is one of several closely related genes on chromosome 7 encoding proteins containing helix-loop-helix motifs. These proteins may function as regulators of transcription. The encoded protein is unique in that its C-terminus is derived from CHARLIE8 transposable element sequence. This gene is located in a region of chromosome 7 that is deleted in Williams-Beuren syndrome, and loss of this locus may contribute to the cognitive phenotypes observed in this disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
Gene Symbol : GTF2IRD2
Gene Name : GTF2I repeat domain containing 2
Chromosome : CHR 7: 748,515,75-747,961,43
Locus : 7q11.23
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