靶标：
TCF4
产品别名：
CDG2T； E2-2； FECD3； ITF-2； ITF2； PTHS； SEF-2； SEF2； SEF2-1； SEF2-1A； SEF2-1B； SEF2-1D； TCF-4； bHLHb19； TCF4； transcription factor 4； transcription factor 4； transcription factor 4； SL3-3 enhancer factor 2； class B basic helix-loop-helix protein 19； immunoglobulin transcription factor 2；
背景信息：
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],
