The precise function of Parkin 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.
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Protein Aliases: E3 ubiquitin-protein ligase parkin; PARK2; Parkin; parkin protein; Parkin RBR E3 ubiquitin-protein ligase; parkin variant SV5DEL; Parkinson disease (autosomal recessive, juvenile) 2, parkin; Parkinson disease protein 2; Parkinson juvenile disease protein 2; parkinson protein 2 E3 ubiquitin protein ligase; parkinson protein 2, E3 ubiquitin protein ligase; parkinson protein 2, E3 ubiquitin protein ligase (parkin); PRKN
Gene Aliases: AR-JP; LPRS2; Park; PARK2; PDJ; PRKN