Description
Product Characteristics:
Parkinson's Disease, the second most common neurodegenerative disease after Alzheimer's Disease, is characterized by the loss of dopaminergic neurons and the presence of Lewy bodies (comprised of alpha synuclein and parkin inclusions). Autosomal Recessive Juvenile Parkinsonism (AR-JP) is a recently described form of Parkinson's Disease that has been linked to a gene that codes for parkin. Parkin, a 52 kDa protein, has a suggested role in the ubiquitin/proteasome pathway for protein degradation. The amino terminus bears sequence homology to ubiquitin while functionally it acts as a RING type ubiquitin protein ligase (E3) that coordinates the transfer of ubiquitin to substrate proteins, thus targeting them for degradation by the proteasome.
Subcellular location: Cytoplasm, Nucleus, Cell membrane
Synonyms: PARK2phospho S101, AR JP, E3 ubiquitin protein ligase parkin, FRA6E, LPRS 2, LPRS2, PARK 2, PARK2, Parkinson disease autosomal recessive juvenile 2, Parkinson disease protein 2, Parkinson juvenile disease protein 2, PDJ, PRKN 2, PRKN, PRKN2, Ubiquitin E3 ligase PRKN.
Target Information: 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]