WW domain-binding protein 4 is a protein that in humans is encoded by the WBP4 gene.
This gene encodes WW domain-containing binding protein 4. The WW domain represents a small and compact globular structure that interacts with proline-rich ligands. This encoded protein is a general spliceosomal protein that may play a role in cross-intron bridging of U1 and U2 snRNPs in the spliceosomal complex A.
Bi-allelic variants in WBP4 are responsible of spliceosomopathies leading to developmental disorders. Symptoms include hypotonia, global developmental delay, severe intellectual disability, brain, musculoskeletal, and gastrointestinal abnormalities.Eden Engal, Kaisa Teele Oja, Reza Maroofian, Katrin Õunap, Maayan Salton, Hagar Mor-Shaked et al., "Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome", AJHG (2023). Note that mutations on gene induce also spliceosomopathies leading to intellectual disability.Greene, D., Thys, C., Berry, I.R. et al., "Mutations in the U4 snRNA gene RNU4-2 cause one of the most prevalent monogenic neurodevelopmental disorders". Nat Med (2024).
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