Parkinson is the second most common neurodegenerative disease after Alzheimers. About 1 percent of people over the age of 65 and 3 percent of people over the age of 75 are affected by the disease. The mutation is the most common cause of Parkinson disease identified to date. The function of Park2 is not well-known; however, it may play a role in the ubiquitin-mediated proteolytic pathway. Mutations in this gene are known to cause autosomal recessive juvenile parkinsonism. Alternative splicing of this gene produces three known products of undetermined function.
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Protein Aliases: E3 ubiquitin-protein ligase parkin; Parkin; Parkin isoform 1; Parkin RBR E3 ubiquitin-protein ligase; 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 (parkin); PRKN; Ubiquitin E3 ligase PRKN
Gene Aliases: AR-JP; LPRS2; PARK2; PDJ; PRKN
UniProt ID: (Human) O60260
Entrez Gene ID: (Human) 5071