PARK2


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PARK2

A gene on chromosome 6q25.2-q27 that encodes a protein that functions within a multiprotein E3 ubiquitin ligase complex, catalysing the covalent attachment of ubiquitin moieties onto substrate proteins—e.g., BCL2, SYT11, CCNE1, GPR37, STUB1, SEPT5, ZNF746 and AIMP2. It also participates in the removal and/or detoxification of abnormally folded or damaged protein by mediating polyubiquitination of misfolded proteins. PARK2 may play a role in controlling neurotransmitter trafficking at the presynaptic terminal and in calcium-dependent exocytosis; it may have tumour suppressor activity.
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References in periodicals archive ?
The PARK2 gene codes for a protein called parkin, which is hypothesized to target proteins for enzymatic degradation.
Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: A mutation update.
They identified that the gene PARK2 was implicated in people with degenerate discs and could affect the speed at which they deteriorate.
We have identified a gene called PARK2 as associated with LDD.
They found that variants of the PARK2 gene appeared to have an effect in people with degenerate discs and influence the speed at which their condition deteriorated.
We designated the gene, formerly known as parkin, as PARK2 (7) [parkinson protein 2, E3 ubiquitin protein ligase (parkin)] (3).
Eight of these 12 highly associated SNPs were within or proximate to known genes {ADDS [adducin 3 (gamma)1, CD47 (CD47 molecule), RPS6KA2 (ribosomal protein S6 kinase, 90kDa, polypeptide 2), KLF6 (Kruppel-like factor 6), PARK2 [parkinson protein 2, E3 ubiquitin protein ligase (parkin)), MSRA (methionine sulfoxide reductase A), NRSNI (neurensin 1), and NRXNI (neurexin 1)} that likely interact through three networks (Figure 1) predicted by multiple binary protein--protein interactions as statistically associated in the curated published literature (Brennan a al.
Currently known genetic subtypes, such as SNCA, LRRK2, and PARK2, can classify and diagnose only five to ten percent of patients with Parkinson's disease; however, the genetic discoveries from this collaboration are anticipated to dramatically boost the diagnostic yield of genetic testing in Parkinson's patients.