The limb-mammary syndrome (LMS)-related G76W mutant located within this sequence had a similarly reduced ATM transactivation potential, indicating that Glycine-76 makes a critical contribution to ΔN-specific p63 transcriptional activity (Figure 6B, G76W), and that reduced TA2-dependent transcription may be a causative factor in this disease. The gene discussed is ATM; the disease is limb-mammary syndrome.