Gene Symbol | PRKN |
Entrez Gene ID | 5071 |
Full Name | parkin RBR E3 ubiquitin protein ligase |
Synonyms | AR-JP,LPRS2,PARK2,PDJ |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Parkinson disease, juvenile, type 2, 600116 (3); Adenocarcinoma of lung, somatic, 211980 (3); Adenocarcinoma, ovarian, somatic, 167000 (3); {Leprosy, susceptibility to}, 607572 (3) |