TCF4 Rabbit pAb

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. Synonyma: E2-2, FCD2, ITF2, PTHS, SEF2, CDG2T, FECD3, ITF-2, SEF-2, TCF-4, SEF2-1, SEF2-1A, SEF2-1B, SEF2-1D, bHLHb19, TCF4