TCF4 : transcription factor 4
Description
The TCF4 (transcription factor 4) is a protein-coding gene located on chromosome 18.
The TCF4 gene provides instructions for making a protein that attaches (binds) to specific regions of DNA and helps control the activity of many other genes. On the basis of this action, the TCF4 protein is known as a transcription factor. The TCF4 protein is part of a group of proteins known as E-proteins. E-proteins each bind with another identical or similar protein and then bind to a specific sequence of DNA known as an E-box. E-proteins are involved in many aspects of development. The TCF4 protein is found in the brain, muscles, lungs, and heart. This protein also appears to be active (expressed) in various tissues before birth. The TCF4 protein plays a role in the maturation of cells to carry out specific functions (cell differentiation) and the self-destruction of cells (apoptosis).
TCF4 is also known as CDG2T, E2-2, FCD2, FECD3, ITF-2, ITF2, PTHS, SEF-2, SEF2, SEF2-1, SEF2-1A, SEF2-1B, SEF2-1D, TCF-4, bHLHb19.
Associated Diseases
- Pitt-Hopkins syndrome
- Primary sclerosing cholangitis
- Fuchs endothelial corneal dystrophy
- Corneal dystrophy, fuchs endothelial, 3
- Fuchs endothelial dystrophy
- Distal 18q deletion syndrome
