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park2

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Official Full Name
parkin RBR E3 ubiquitin protein ligase
Background
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.
Synonyms
PARK2; PDJ; PRKN; AR-JP; LPRS2; parkin; parkinson protein 2, E3 ubiquitin protein ligase (parkin); E3 ubiquitin-protein ligase parkin; parkin 2; OTTHUMP00000017562; OTTHUMP00000017563; OTTHUMP00000017564; OTTHUMP00000017565; OTTHUMP00000017566; OTTHUMP00000017567; E3 ubiquitin ligase; parkinson disease protein 2; parkinson juvenile disease protein 2; Parkinson disease (autosomal recessive, juvenile) 2, parkin; EC 6.3.2.-; AR JP; parkin RBR E3 ubiquitin protein ligase; zgc:112390; si:ch211-123f21.1