Entrez gene ID | | 5071 |
Official gene symbol | | PARK2 |
Full name | | Parkinson disease (autosomal recessive, juvenile) 2, parkin |
Aliases | | ,AR-JP,LPRS2,PDJ,PRKN, |
Gene summary | | 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. [provided by RefSeq] |
Location | | Chromosome: 6 Locus: 6q25.2-q27 |
Gene position | | 163148834 - 161768590 Map Viewer |
Gene orientation | | minus |
Gene size | | 1380245 bp |
Gene sequence |
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OMIM ID | | 602544 |
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