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TCF4

Official Full Name
transcription factor 4
Organism
Homo sapiens
GeneID
6925
Background
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]
Synonyms
E2-2; FCD2; ITF2; PTHS; SEF2; CDG2T; FECD3; ITF-2; SEF-2; TCF-4; SEF2-1; SEF2-1A; SEF2-1B; SEF2-1D; bHLHb19;

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