TFAP2A : transcription factor AP-2 alpha


Description

The TFAP2A (transcription factor AP-2 alpha) is a protein-coding gene located on chromosome 6.

The TFAP2A gene provides instructions for making a protein called transcription factor AP-2 alpha (AP-2α). 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.

TFAP2A encodes a transcription factor that regulates gene expression by binding to specific DNA sequences. It plays a critical role in development, particularly in the formation of the eyes, face, body wall, limbs, and neural tube. TFAP2A binds to the consensus sequence 5'-GCCNNNGGC-3' and activates genes involved in these developmental processes. Additionally, it suppresses the expression of genes such as MCAM/MUC18, C/EBP alpha, and MYC. Notably, TFAP2A is essential for the early development of the lens vesicle. In collaboration with the CITED2 coactivator, it stimulates the transcription activation of the PITX2 P1 promoter and associates with chromatin at this promoter region.

TFAP2A is also known as AP-2, AP-2alpha, AP2TF, BOFS, TFAP2.

Associated Diseases


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