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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Association study of major risk single nucleotide polymorphisms in the common regulatory region of PARK2 and PACRG genes with leprosy in an Indian population.
The PARK2 gene codes for a protein called parkin, which is hypothesized to target proteins for enzymatic degradation.
They identified that the gene PARK2 was implicated in people with degenerate discs and could affect the speed at which they deteriorate.
27-29) Las mutaciones en PARK2 comprenden un amplio espectro, incluyendo deleciones y duplicaciones de exones, ademas de diferentes tipos de mutaciones puntuales que afectan a los doce exones del gen.
Genes involved in neuronal cell adhesion (including NRXN1, CNTN4, NLGN1, ASTN2) were enriched with copy number variation in ASD cases, compared with controls, as were genes involved in ubiquitin degradation (including UBE3A, PARK2, RFWD2, and FBXO40).
Early onset PD or familial PD (occurring in people under 50 years of age) is less common, and recent data has identified some nuclear genes associated with familial PD, like LRRK2, PARK2, SNCA, PARK7, and PINK1 [104].
In the UK study, the researchers looked at 4,600 people and found that the PARK2 gene was linked to age-related disc problems.
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.
Susceptibility to leprosy is associated with PARK2 and PACRG.
This methodology identified a promoter region shared by PARK2 also denoted as parkin and PACRG (parkin co-regulated gene).
Genome-wide RNAi screen identifies ATPase inhibitory factor 1 (ATPIF1) as essential for PARK2 recruitment and mitophagy," Autophagy, vol.