WWP1

The protein functions as an E3 ubiquitin ligase that targets multiple substrates for proteasomal degradation and regulates key cellular pathways including TGF-beta signaling and the Hippo pathway involved in cell contact inhibition. Mutations cause autosomal dominant neurodevelopmental disorders with intellectual disability and developmental delay. This gene is highly constrained against loss-of-function variants in the population, indicating that such variants are likely to be pathogenic.