The TFAP2A gene provides instructions for making a protein called transcription factor AP-2 alpha (AP-2α). As its name suggests, this protein is a transcription factor, which means it attaches (binds) to specific regions of DNA and helps control the activity of particular genes. Transcription factor AP-2α is one of a group of related proteins called AP-2 transcription factors. These proteins regulate genes that help control cell division and the self-destruction (apoptosis) of cells that are no longer needed.
Transcription factor AP-2α is involved in development before birth. In particular, this protein is active in the neural crest, which is a group of cells in the early embryo that give rise to many tissues and organs. Among the embryonic structures formed from neural crest cells are the branchial arches, which develop into the bones and other tissues of the head and neck. The TFAP2A gene appears to be especially important for the development of tissues derived from the first and second branchial arches.
Other Names
activating enhancer-binding protein 2-alpha; activator protein 2; AP-2; AP-2 transcription factor; AP-2alpha; AP2-alpha; AP2A_HUMAN; AP2TF; BOFS; TFAP2; transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha); transcription factor AP-2-alpha
Related Genetics Topics
- Anophthalmia/Microphthalmia — MedlinePlus Genetics
- Coloboma — MedlinePlus Genetics
- Branchio-oculo-facial syndrome — MedlinePlus Genetics
Identifiers
- NCBI Gene: 7020
- OMIM: 107580
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
