RBM17

The encoded protein is an RNA binding protein that functions as a splice factor in the spliceosome complex, specifically binding to 3'AG sequences at exon/intron borders and regulating alternative splicing and cryptic splice site utilization. Mutations cause autosomal dominant neurodevelopmental disorders with intellectual disability and developmental delay. This gene is highly constrained against loss-of-function variants, indicating that such mutations are likely to have severe clinical consequences.