PRKN (Entrez ID: 5071)

Entrez Gene ID 5071
Official Gene Symbol PRKN (GeneCards)
Full name parkin RBR E3 ubiquitin protein ligase
Location 6q26
Other ids Vega : OTTHUMG00000015970
MIM : 602544
HGNC : HGNC:8607
Ensembl : ENSG00000185345
Other names PDJ, AR-JP, LPRS2, PARK2
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, Jul 2008]

Variants

Found 24 variants in this database.