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.
WB,1:500 - 1:1000|IF/ICC,1:50 - 1:200|ELISA,Recommended starting concentration is 1 µg/mL. Please optimize the concentration based on your specific assay requirements.
