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Details of PRKRA gene in Homo sapiens
IDs |
|---|
| Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
|
| PRKRA | PACT,RAX, | O75569 | PRKRA_HUMAN | 8575
| ENSG00000180228
| Interferon-inducible double stranded RNA-dependent protein kinase activator A | SPROT |
Disease |
|---|
| Disease |
OMIM id |
| Dystonia 16 (DYT16) [MIM:612067]: An early-onset dystonia-parkinsonism disorder. Dystonia is defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT16 patients have progressive, generalized dystonia with axial muscle involvement, oro-mandibular (sardonic smile) and laryngeal dystonia and, in some cases, parkinsonian features. Note=The disease is caused by mutations affecting the gene represented in this entry. |
612067 |
Orthologs in other species |
|---|
| M. musculus |
D. melonogaster |
C. elegans |
S. purpuratus |
| Prkra | loqs | --- | |
