This gene encodes transcription factor 4, a basic helix-loop-helix transcription factor. The encoded protein recognizes an Ephrussi-box ('E-box') binding site ('CANNTG') - a motif first identified in immunoglobulin enhancers. This gene is broadly expressed, and may play an important role in nervous system development. Defects in this gene are a cause of Pitt-Hopkins syndrome. In addition, an intronic CTG repeat normally numbering 10-37 repeat units can expand to >50 repeat units and cause Fuchs endothelial corneal dystrophy. Multiple alternatively spliced transcript variants that encode different proteins have been described. [provided by RefSeq, Jul 2016]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| TCF4-20-RE | 20 (40 μL) | 200 μL |  |
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| TCF4-20-OR | 20 (40 μL) | 200 μL |  |
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| TCF4-20-GO | 20 (40 μL) | 200 μL |  |
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| TCF4-20-GR | 20 (40 μL) | 200 μL |  |
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| TCF4-20-AQ | 20 (40 μL) | 200 μL |  |
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This gene encodes transcription factor 4, a basic helix-loop-helix transcription factor. The encoded protein recognizes an Ephrussi-box ('E-box') binding site ('CANNTG') - a motif first identified in immunoglobulin enhancers. This gene is broadly expressed, and may play an important role in nervous system development. Defects in this gene are a cause of Pitt-Hopkins syndrome. In addition, an intronic CTG repeat normally numbering 10-37 repeat units can expand to >50 repeat units and cause Fuchs endothelial corneal dystrophy. Multiple alternatively spliced transcript variants that encode different proteins have been described. [provided by RefSeq, Jul 2016]
Gene Symbol : TCF4
Gene Name : Transcription factor 4
Chromosome : CHR 18: 556,359,92-552,223,30
Locus : 18q21.2
Alt. Genes : LRPPRC
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