PRKRA Polyclonal Antibody

disease:Defects in PRKRA are the cause of dystonia type 16 (DYT16) [MIM:612067]. DYT16 is 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.,function:Appears to have a pro-apoptotic function that may be suppressed in the presence of growth factor (By similarity). Activates EIF2AK2 in absence of double stranded RNA (dsRNA).,PTM:Phosphorylated on serine.,similarity:Contains 3 DRBM (double-stranded RNA-binding) domains.,subunit:Heterodimer. Interacts with EIF2AK2 through its DRBM domains. Also able to interact with dsRNA.,