PRKN: A Pathogenic Gene of Parkinson's Disease

Autosomal recessive early-onset Parkinson's disease (PD) is most often caused by mutations in the Parkin (PRKN) gene. PD is a neurodegenerative disorder that affects behavior and motor skills. It has symptoms including shaking, bradykinesia, muscle rigidity, postural instability, difficulty speaking and depression.
The precise function of the PRKN 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. 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. Heterozygous PRKN mutation carriers may also have increased risk for developing clinical symptoms of PD.

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More information about genes and diseases could be found in the Rare Disease Data Center (RDDC)

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