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.

Aliases：    E2-2; ITF2; PTHS; SEF2; FECD3; ITF-2; SEF-2; TCF-4    

Entrez GeneID：    6925    

Swissprot：    P15884    

WB Predicted band size：    71.3kDa    

Host/Isotype：    Mouse IgG1    

Species Reactivity：    Human    

Immunogen：    Purified recombinant fragment of human TCF4 (AA: 518-667) expressed in E. Coli.    

FCM    1/200 - 1/400    

ELISA    1/10000