Parkin: Difference between revisions
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== Function == | == Function == | ||
Parkin is an E3 ubiquitin ligase involved in mitophagy via the Pink1-Parkin pathway. Parkin can also act as a transcription factor, downregulating, for instance, the expression of p53 and PS2, and upregulating the expression of PS1. | Parkin is an E3 ubiquitin ligase involved in mitophagy via the Pink1-Parkin pathway. Pink1 is a kinase that phosphorilates Parkin's Ubl domain at Ser65 residue, changing its conformation and allowing it to exert its ubiquitin ligase function. Parkin can also act as a transcription factor, downregulating, for instance, the expression of p53 and PS2, and upregulating the expression of PS1. | ||
== Disease == | == Disease == | ||
Mutations in the Parkin gene are widely associated with recessive juvenile Parkinson's disease forms. Being involved in autophagy via ubiquitinylation and in transcriptional repression of important cell cycle and amyloidogenic genes, it is also implied in Alzheimer's disease forms. | Mutations in the Parkin gene are widely associated with recessive juvenile Parkinson's disease forms. Being involved in autophagy via ubiquitinylation and in transcriptional repression of important cell cycle and amyloidogenic genes, it is also implied in Alzheimer's disease forms and other neurodegenerative diseases. | ||
== Relevance == | == Relevance == | ||
