PWWP2A

The protein acts as a chromatin-binding adapter that regulates histone acetylation levels at actively transcribed genes by forming subcomplexes with the NuRD chromatin remodeling complex. Mutations cause neurodevelopmental disorders with intellectual disability, developmental delay, and various congenital anomalies, inherited in an autosomal dominant pattern. This gene is highly constrained against loss-of-function mutations, indicating that such variants are likely to be pathogenic when identified in patients with compatible clinical features.