Literature associating TFAP2B and Char syndrome
Transcription factor AP-2 beta (activating enhancer binding protein 2 beta); 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-beta appears to be required for normal face and limb development and for proper terminal differentiation and function of renal tubular epithelia.
Synonyms: TFAP2B, TFAP2Bp, hTFAP2B, A8K557, Q92481 ...