Parkin R275W Mutant E3 Ligase

Encoded by the PARK2 gene, the E3 ligase Parkin is part of the multi-protein E3 complex that encodes substrate proteins for degradation in the Ubiquitin-Proteasome Pathway. The precise function of this protein is unknown; however, mutations in this gene are known to cause a familial form of Parkinson’s disease known as autosomal recessive juvenile Parkinson’s disease (AR-JP). Parkin is described to be necessary for mitophagy (autophagy of mitochondria). The R275W mutation has been shown to destabilize Parkin and disrupt interaction with the helix that mediates pUb binding.