Literature associating TFAP2E and branchiooculofacial syndrome
Transcription factor AP-2 epsilon (activating enhancer binding protein 2 epsilon); Sequence-specific DNA-binding protein that interacts with inducible viral and cellular enhancer elements to regulate transcription of selected genes. AP-2 factors bind to the consensus sequence 5'-GCCNNNGGC-3' and activate genes involved in a large spectrum of important biological functions including proper eye, face, body wall, limb and neural tube development. They also suppress a number of genes including MCAM/MUC18, C/EBP alpha and MYC. AP-2-epsilon may play a role in the development of the CNS and in cartilage differentiation (By similarity).
Synonyms: TFAP2E, TFAP2Ep, hTFAP2E, Q6VUC0, Q6VUC0p ...