Gene: PRKRA
Alternate names for this Gene: DYT16|HSD14|PACT|RAX
Gene 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.
Gene is located in Chromosome: 2
Location in Chromosome : 2q31.2
Description of this Gene: protein activator of interferon induced protein kinase EIF2AK2
Type of Gene: protein-coding
Gene: CHROMR
Alternate names for this Gene: CHROME|PRKRA-AS1
Gene Summary:
Gene is located in Chromosome: 2
Location in Chromosome : 2q31.2
Description of this Gene: cholesterol induced regulator of metabolism RNA
Type of Gene: ncRNA
rs121434410 in
PRKRA;CHROMR gene and
DYSTONIA 16 (disorder)
PMID 26990861 2016 PRKRA Mutation Causing Early-Onset Generalized Dystonia-Parkinsonism (DYT16) in an Italian Family.
PMID 25142429 2014 DYT16 revisited: exome sequencing identifies PRKRA mutations in a European dystonia family.
PMID 18243799 2008 DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA.
PMID 18420150 2008 A heterozygous frameshift mutation in PRKRA (DYT16) associated with generalised dystonia in a German patient.
PMID 26231208 2015 Altered activation of protein kinase PKR and enhanced apoptosis in dystonia cells carrying a mutation in PKR activator protein PACT.
rs62176107 in
PRKRA;CHROMR gene and
Dermatitis, Atopic
PMID 25574825 2015 Genome-wide comparative analysis of atopic dermatitis and psoriasis gives insight into opposing genetic mechanisms.
rs62176107 in
PRKRA;CHROMR gene and
Psoriasis
PMID 25574825 2015 Genome-wide comparative analysis of atopic dermatitis and psoriasis gives insight into opposing genetic mechanisms.