| Gene Symbol |
PRKN
|
| Gene Synonyms |
PDJ AR-JP LPRS2 PARK2 |
| Gene Full Name |
parkin RBR E3 ubiquitin protein ligase |
| 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, Jul 2008] |
| Alternative Names |
AR JP E3 ubiquitin ligase E3 ubiquitin protein ligase parkin E3 ubiquitin-protein ligase parkin FRA6E LPRS 2 LPRS2 PARK 2 Park2 Parkin 2 Parkinson disease (autosomal recessive juvenile) 2 Parkinson disease (autosomal recessive juvenile) 2 parkin Parkinson disease protein 2 Parkinson juvenile disease protein 2 Parkinson protein 2 E3 ubiquitin protein ligase Parkinson protein 2 E3 ubiquitin protein ligase (parkin) PDJ PRKN 2 PRKN PRKN2 PRKN2_HUMAN Ubiquitin E3 ligase PRKN |
| Molecular Weight(MW) |
52 kDa |
| Cellular Localization |
Cell projection, Cytoplasm, Endoplasmic reticulum, Membrane, Mitochondrion, Mitochondrion outer membrane, Nucleus, Synapse. |