WBP4
Template:Short description Template:Infobox gene WW domain-binding protein 4 is a protein that in humans is encoded by the WBP4 gene.[1][2]
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.[2]
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.[3] Note that mutations on Template:Ill gene induce also spliceosomopathies leading to intellectual disability.[4]
References
<templatestyles src="Reflist/styles.css" />
- ↑ Script error: No such module "Citation/CS1".
- ↑ a b Script error: No such module "citation/CS1".
- ↑ 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). Script error: No such module "CS1 identifiers".
- ↑ 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). Script error: No such module "CS1 identifiers".
Script error: No such module "Check for unknown parameters".
Further reading
<templatestyles src="Refbegin/styles.css" />
- Script error: No such module "Citation/CS1".
- Script error: No such module "Citation/CS1".
- Script error: No such module "Citation/CS1".
- Script error: No such module "Citation/CS1".
- Script error: No such module "Citation/CS1".
- Script error: No such module "Citation/CS1".
- Script error: No such module "Citation/CS1".
Script error: No such module "Navbox".