Full name: parkin RBR E3 ubiquitin protein ligase

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: AR-JP; LPRS2; PARK2; PDJ

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]

Expression: Broad expression in heart (RPKM 3.6), kidney (RPKM 3.5) and 21 other tissues

Gene size: 1380350bp

Exon count: 13