TFAP2E

Description

The TFAP2E (transcription factor AP-2 epsilon) is a protein-coding gene located on chromosome 1.

TFAP2E, also known as AP-2 epsilon (activating enhancer binding protein 2 epsilon), is a human gene. The protein encoded by this gene is a transcription factor.

TFAP2E, also known as AP-2-epsilon, is a DNA-binding protein that interacts with specific DNA sequences called enhancers. These enhancers regulate the activity of genes by turning them on or off. TFAP2E specifically binds to the sequence 5'-GCCNNNGGC-3' and plays a crucial role in a wide range of developmental processes, including eye, face, body wall, limb, and neural tube development. It can activate genes involved in these processes but also repress the activity of other genes such as MCAM/MUC18, C/EBP alpha and MYC. Additionally, TFAP2E may be involved in the development of the central nervous system (CNS) and cartilage differentiation.

TFAP2E is also known as AP-2epsilon, AP2E.

Associated Diseases

WES Whole Exome Sequencing