CDC40

Chr 6

cell division cycle 40

The CDC40 protein is essential for the catalytic step II of pre-mRNA splicing as a component of the activated spliceosome and plays an important role in embryonic brain development. Mutations cause pontocerebellar hypoplasia type 15, a severe neurodevelopmental disorder affecting the brainstem and cerebellum. This condition follows autosomal recessive inheritance.

ResearchSummary from RefSeq, OMIM, UniProt

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)

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtPontocerebellar hypoplasia 15

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.31

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (2)

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