PRKRA

Chr 2AR

protein activator of interferon induced protein kinase EIF2AK2

Also known as: DYT16, HSD14, PACT, RAX

NCBI Gene: 8575 ENSG00000180228 UniProt: O75569 OMIM: 603424

This gene encodes a protein kinase that activates PKR leading to translation inhibition and apoptosis, and is required for siRNA production by DICER1. Mutations cause dystonia 16, an autosomal recessive movement disorder. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.558), suggesting some intolerance to complete loss of function.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a protein kinase activated by double-stranded RNA which mediates the effects of interferon in response to viral infection. Mutations in this gene have been associated with dystonia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2008]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Dystonia 16MIM #612067

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

0.56

LOEUF

Mechanism· predicted