Mutations in the DNA-binding domain of p63, R204W, R279H and R304W, that are found in EEC syndrome disrupted transactivation, whereas mutations found in non-syndromic SHFM4, K194E, and in AEC syndrome, L517F, reduced the transactivation activity not more than 2-fold (Figure 4C). The gene discussed is TP63; the disease is Ankyloblepharon - ectodermal defects - cleft lip/palate.