SUMO1

The protein functions as a small ubiquitin-like modifier that covalently attaches to target proteins to regulate nuclear transport, DNA replication and repair, transcriptional regulation, and signal transduction rather than targeting proteins for degradation. Pathogenic variants cause an autosomal recessive neurodevelopmental disorder characterized by intellectual disability, developmental delay, and cleft palate. The gene is highly constrained against loss-of-function variants in the population, indicating that such variants are likely to be pathogenic when present.