CDC40
Function
Required for pre-mRNA splicing as component of the activated spliceosome (PubMed:33220177). Plays an important role in embryonic brain development; this function does not require proline isomerization (PubMed:33220177).
Involvement in disease
Pontocerebellar hypoplasia 15
PCH15
A form of pontocerebellar hypoplasia, a disorder characterized by structural defects of the pons and cerebellum, evident upon brain imaging. PCH15 is a severe autosomal recessive form characterized by progressive microcephaly, and poor or absent psychomotor development with severely impaired intellectual development apparent from birth. Other features may include spastic quadriplegia, early-onset seizures, and chronic anemia and thrombocytopenia.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Undergoes isomerization of the peptide bond between Gly-94 and Pro-95. The reaction is catalyzed by PPIL1.
Cellular localization
- Nucleus
- Nucleus speckle
Alternative names
EHB3, PRP17, PRPF17, CDC40, Pre-mRNA-processing factor 17, Cell division cycle 40 homolog, EH-binding protein 3, PRP17 homolog, Ehb3, hPRP17