×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000
GeneticVariation
BEFREE
Approximately 50% of all ARJP cases are attributed to mutations in the gene park2 , coding for the protein parkin.
21348451
2011
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000
GeneticVariation
UNIPROT
Association between early-onset Parkinson's disease and mutations in the parkin gene.
10824074
2000
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000
CausalMutation
CLINVAR
Association between early-onset Parkinson's disease and mutations in the parkin gene.
10824074
2000
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000
CausalMutation
CLINVAR
Autoregulation of Parkin activity through its ubiquitin-like domain.
21694720
2011
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000
CausalMutation
CLINVAR
Cerebellar and pyramidal dysfunctions, palpebral ptosis and weakness as presenting symptoms of PARK-2.
18973255
2009
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000
GeneticVariation
UNIPROT
Complex relationship between Parkin mutations and Parkinson disease.
12116199
2002
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000
CausalMutation
CLINVAR
Covalent ISG15 conjugation positively regulates the ubiquitin E3 ligase activity of parkin.
27534820
2016
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000
GeneticVariation
BEFREE
Detection of compound heterozygous deletions in the parkin gene of fibroblasts in patients with autosomal recessive hereditary parkinsonism (PARK2 ).
16517073
2006
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000
GeneticVariation
BEFREE
Different mutations located along the parkin gene have been observed in different AR-JP affected families, possibly interfering with the normal function of parkin and the proteasome system.
12446971
2002
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000
CausalMutation
CLINVAR
Digenic parkinsonism: investigation of the synergistic effects of PRKN and LRRK2.
17095157
2006
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000
CausalMutation
CLINVAR
Distribution, type, and origin of Parkin mutations: review and case studies.
15390068
2004
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000
CausalMutation
CLINVAR
Diverse effects of pathogenic mutations of Parkin that catalyze multiple monoubiquitylation in vitro.
16339143
2006
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000
GeneticVariation
UNIPROT
Evaluation of 50 probands with early-onset Parkinson's disease for Parkin mutations.
11971093
2002
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000
GeneticVariation
UNIPROT
Familial Parkinson disease gene product, parkin, is a ubiquitin-protein ligase.
10888878
2000
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000
CausalMutation
CLINVAR
Familial Parkinsonism and early onset Parkinson's disease in a Brazilian movement disorders clinic: phenotypic characterization and frequency of SNCA, PRKN, PINK1, and LRRK2 mutations.
19205068
2009
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000
CausalMutation
CLINVAR
Familial-associated mutations differentially disrupt the solubility, localization, binding and ubiquitination properties of parkin.
16049031
2005
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000
GeneticVariation
CLINVAR
Familial-associated mutations differentially disrupt the solubility, localization, binding and ubiquitination properties of parkin.
16049031
2005
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000
Biomarker
BEFREE
Finally, we explored the role of PINK1/Parkin signaling in albumin-induced mitophagy by inhibiting mitophagy by knockdown of PARK2 (Parkin ) level.
29494565
2018
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000
GeneticVariation
BEFREE
Fortunately, our understanding of the pathogenesis of two types of recessive familial PDs--early-onset familial PD caused by dysfunction of the PTEN induced putative kinase 1 (PINK1) gene and autosomal recessive juvenile Parkinsonism (ARJP ) caused by a mutation in the Parkin gene--has evolved and continues to expand.
20724841
2010
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000
Biomarker
BEFREE
Fragile sites-associated genes, including FHIT (FRA3B), WWOX (FRA16D), DCC (FRA18B) and PARK2 (FRA6E ) were frequently inactivated in HIV-NHL by interstitial deletions, and a significantly higher prevalence of FHIT alterations was observed in HIV-DLBCL compared to IC-DLBCL.
19832807
2010
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000
CausalMutation
CLINVAR
Genetic analysis of PARK2 and PINK1 genes in Brazilian patients with early-onset Parkinson's disease.
24167364
2013
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000
Biomarker
MGD
Genetic mouse models for Parkinson's disease display severe pathology in glial cell mitochondria.
21212098
2011
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000
CausalMutation
CLINVAR
Genomic and Functional Analysis of the E3 Ligase PARK2 in Glioma.
25877876
2015
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000
GeneticVariation
CLINVAR
Genotype and phenotype in Parkinson's disease: lessons in heterogeneity from deep brain stimulation.
23818421
2013
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000
CausalMutation
CLINVAR
Heterogeneous phenotype in a family with compound heterozygous parkin gene mutations.
16476817
2006