POLDIP3

Chr 22

DNA polymerase delta interacting protein 3

Also known as: PDIP3, PDIP46, SKAR

NCBI Gene: 84271 ENSG00000100227 UniProt: Q9BY77

The protein regulates translation by recruiting ribosomal protein S6 kinase beta-1 to mRNAs and enhances translational efficiency of spliced mRNAs. Mutations cause autosomal recessive intellectual disability with microcephaly and seizures, typically presenting in early infancy. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.52), consistent with its role in fundamental cellular processes affecting neurodevelopment.

ResearchSummary from RefSeq, UniProt

This gene encodes an RRM (RNA recognition motif)-containing protein that participates in the regulation of translation by recruiting ribosomal protein S6 kinase beta-1 to mRNAs. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

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

0.52

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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