PRKN, Official Symbol PRKNprovided by HGNC Official Full Name parkin RBR E3 ubiquitin protein ligaseprovided by HGNC Primary source HGNC:HGNC:8607 See related Ensembl:ENSG00000185345 MIM:602544; AllianceGenome:HGNC:8607 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as 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] Expression Broad expression in heart (RPKM 3.6), kidney (RPKM 3.5) and 21 other tissues See more Orthologs mouse all