NUDT21

Chr 16

nudix hydrolase 21

Also known as: CFIM25, CPSF5

NCBI Gene: 11051 ENSG00000167005 UniProt: O43809

The NUDT21 protein functions as a component of the cleavage factor Im (CFIm) complex, which regulates 3'-end cleavage and polyadenylation processing of pre-mRNAs by binding to UGUA elements in 3'-untranslated regions and controlling alternative polyadenylation site choice. Loss-of-function mutations cause an autosomal dominant neurodevelopmental disorder through haploinsufficiency, as evidenced by the gene's extreme intolerance to loss-of-function variants (pLI = 0.99). The pathogenic mechanism involves disrupted mRNA processing and altered gene expression patterns critical for normal neurodevelopment.

ResearchSummary from RefSeq, UniProt, Mechanism

The protein encoded by this gene is one subunit of a cleavage factor required for 3' RNA cleavage and polyadenylation processing. The interaction of the protein with the RNA is one of the earliest steps in the assembly of the 3' end processing complex and facilitates the recruitment of other processing factors. This gene encodes the 25kD subunit of the protein complex, which is composed of four polypeptides. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

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.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.23

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)

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