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PRKRA protein activator of interferon induced protein kinase EIF2AK2

Also known as: RAX; PACT; DYT16; HSD14

Summary

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]

Associated conditions

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DescriptionTests
Dystonia 16
MedGen: C2677567OMIM: 612067GeneReviews: Not available
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Genomic context

Location:
2q31.2
Sequence:
Chromosome: 2; NC_000002.12 (178431414..178451240, complement)
Total number of exons:
10

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