Description
Product Characteristics: Mutations in the gene, Parkin (PARK2), appear to be responsible for the pathogenesis of autosomal recessive juvenile Parkinsonism. Parkin plays a role in the ubiquitin-mediated proteolytic pathway by removal and/or detoxification of abnormally folded or damaged protein. Loss of this ubiquitin ligase activity appears to be the mechanism underlying pathogenesis of Parkin.
Target Information: The precise function of this gene is unknown\, however, the encoded protein is a component of a multiprotein E3 ubiquitin ligase complex that mediates the targeting of substrate proteins for proteasomal degradation. Mutations in this gene are known to cause Parkinson disease and autosomal recessive juvenile Parkinson disease. Alternative splicing of this gene produces multiple transcript variants encoding distinct isoforms. Additional splice variants of this gene have been described but currently lack transcript support. [provided by RefSeq, Jul 2008]