WBP4
Domain
The WW domain recognizes the proline, glycine and methionine-rich (PGM) motif present in the splicing factors, as well as the Arg/Gly-rich-flanked Pro-rich domains found in several WW domain-binding proteins.
Function
Involved in pre-mRNA splicing as a component of the spliceosome (PubMed:19592703, PubMed:28781166, PubMed:9724750). May play a role in cross-intron bridging of U1 and U2 snRNPs in the mammalian A complex (PubMed:9724750).
Involvement in disease
Neurodevelopemental disorder with hypotonia, feeding difficulties, facial dysmorphism, and brain abnormalities
NEDHFDB
An autosomal recessive, severe disorder apparent from infancy and characterized by global developmental delay, poor or absent speech, severe intellectual disability, hypotonia, and musculoskeletal and gastrointestinal abnormalities. Brain imaging shows aplasia or hypoplasia of corpus callosum in most patients.
None
The disease is caused by variants affecting the gene represented in this entry.
Cellular localization
- Nucleus
- Nucleus speckle
Alternative names
FBP21, FNBP21, WBP4, WW domain-binding protein 4, WBP-4, Formin-binding protein 21, WW domain-containing-binding protein 4