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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In this research, neural progenitor cells induced from iPS cells established from two familial Parkinson's disease (PARK2) patients were used to efficiently generate dopaminergic neurons.
Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: A mutation update.
Mitophagy activation in Hurthle cells has been found to be ineffective [27], and abnormal mitochondria accumulate as a result of reduced turnover due to defective mitophagy caused by a PARK2 gene mutation.
Mutations in genes, synuclein alpha (SNCA), leucine-rich repeat kinase 2 (LRRK2), Parkin RBR E3 Ubiquitin Protein Ligase (PARK2), PTEN-induced putative kinase 1 (PINK1), ubiquitin carboxyl-terminal esterase L1 (UCHL1), and beta-glucocerebrosidase (GBA), lead to pathogenic changes in the brain [48].
(13,14) The majority aimed at determining the role of proteins and enzymes involved in Th 1 and Th 2 immune responses, (15) vitamin D receptor gene variations, (13,16) Parkin (PARK2) and parkin co-regulated genes (PACRG), (17,18) and also the Toll-like receptor gene polymorphisms, with conflicting results.
Furthermore, the researchers confirmed that iPSCs derived from the T cells of patients suffering from juvenile Parkinson's disease (PARK2) exhibited impaired mitochondrial phenotypes that the team had previously reported using the fibroblast-derived iPSCs derived from this patient.
Multiple genetic mutations have been associated with PD, including the leucine-rich repeat kinase 2 (LRRK2), PARK2, SNCA, PARK7, and PINK1 genes.
want to " Grant, a porter at Ninewells Hospital, added: "Our parents are carriers of the Park2 gene that can lead to Parkinson's and we have just been really unlucky that they got together, had us and the gene was passed on and we developed the illness."
To find out more about Finham Park 2, visit www.finhampark2.co.uk, follow them on Twitter @FinHAMPARK2 or like their Facebook page Finham Park2.
Zeng said the Park2 mutation altered mitochondrial structure and function in dopamine producing neurons, causing them to die.
al.,; "Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update", Human Mutation 31 (7): 763-780 (2010).