WBP4
Description
The WBP4 (WW domain binding protein 4) is a protein-coding gene located on chromosome 13.
WBP4 is a protein encoded by the WBP4 gene. It contains a WW domain, a small globular structure that interacts with proline-rich ligands. WBP4 is a general spliceosomal protein that may play a role in cross-intron bridging of U1 and U2 snRNPs in the spliceosomal complex A. Mutations in WBP4 are associated with spliceosomopathies, leading to developmental disorders including hypotonia, global developmental delay, severe intellectual disability, and abnormalities in the brain, musculoskeletal system, and gastrointestinal tract.
WBP4 is involved in pre-mRNA splicing as a component of the spliceosome. It may play a role in cross-intron bridging of U1 and U2 snRNPs in the mammalian A complex.
WBP4 is also known as FBP21, NEDHFDB.
