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Description
Parkinsons disease (PD) is characterized by the presence of Lewy bodies (intracellular inclusions) and by the loss of dopaminergic neurons. Research studies have shown that mutations in alpha-synuclein, Parkin, and DJ-1 are linked to PD. alpha-synuclein is a major component of the aggregates found in Lewy bodies. Parkin is involved in protein degradation through the ubiquitin-proteasome pathway, and investigators have shown that mutations in Parkin cause early onset of PD. Loss-of-function mutations in DJ-1 cause early onset of PD, but DJ-1 is associated with multiple functions: it cooperates with Ras to increase cell transformation, it positively regulates transcription of the androgen receptor, and it may function as an indicator of oxidative stress. Dopamine D2 receptor-mediated functions are greatly impaired in DJ-1 (-/-) mice, resulting in reduced long-term depression.Synonyms: PARK7, DJ-1, DJ1, FLJ27376, FLJ34360, FLJ92274