WW domain-binding protein 4 is a protein that in humans is encoded by the WBP4 gene.[5][6]
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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.[6]
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.[7] Note that mutations on RNU4-2 [ia] gene induce also spliceosomopathies leading to intellectual disability.[8]
