RIOK3

Chr 18

RIO kinase 3

Also known as: SUDD

NCBI Gene: 8780 ENSG00000101782 UniProt: O14730

The RIOK3 protein is a serine/threonine kinase that regulates ribosome quality control by promoting degradation of stalled 40S ribosomal subunits and modulates type I interferon immune responses. Mutations cause autosomal recessive neurodevelopmental disorders with intellectual disability, seizures, and growth abnormalities. This gene is not highly constrained against loss-of-function variants, consistent with recessive inheritance patterns.

ResearchSummary from RefSeq, UniProt

This gene was first identified by the similarity of its product to the Aspergillus nidulans SUDD protein. This gene is now recognized as a member of the right open reading frame (RIO) kinase gene family. This gene encodes a serine/threonine kinase that localizes to the cytoplasm and plays a role in the processing of the pre-40 S ribosomal subunit. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2017]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.80

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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