×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000
GeneticVariation
BEFREE
Mutations in the parkin gene are a common cause of autosomal recessive juvenile parkinsonism (AR-JP ) but their role in idiopathic Parkinson's disease (PD) is not clear.
16019250
2005
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000
GeneticVariation
UNIPROT
Transcriptional repression of p53 by parkin and impairment by mutations associated with autosomal recessive juvenile Parkinson's disease.
19801972
2009
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000
GeneticVariation
UNIPROT
Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism.
9560156
1998
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000
GeneticVariation
BEFREE
Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism .
9560156
1998
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000
GeneticVariation
CLINVAR
Striatal and cortical pre- and postsynaptic dopaminergic dysfunction in sporadic parkin-linked parkinsonism.
15090472
2004
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000
GeneticVariation
UNIPROT
Role of parkin mutations in 111 community-based patients with early-onset parkinsonism.
12112109
2002
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000
GeneticVariation
BEFREE
Autosomal-recessive juvenile parkinsonism (AR-JP ) is caused by mutations in the parkin gene.
12846978
2003
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000
GeneticVariation
BEFREE
Autosomal-recessive juvenile Parkinsonism (ARJP ) is caused by mutations in the PARK2 gene coding for parkin and constitutes the most common familial form of PD.
15249681
2004
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000
GeneticVariation
BEFREE
Homozygous deletions and large heterozygous deletions have been observed in PARK2 in ARJP patients.
12874785
2003
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000
GeneticVariation
UNIPROT
Parkin, PINK1, and DJ-1 form a ubiquitin E3 ligase complex promoting unfolded protein degradation.
19229105
2009
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000
GeneticVariation
UNIPROT
Novel mutations, pseudo-dominant inheritance, and possible familial affects in patients with autosomal recessive juvenile parkinsonism.
10939576
2000
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000
GeneticVariation
CLINVAR
Mutations in the parkin gene are a minor cause of Parkinson's disease in the South African population.
21996382
2012
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000
GeneticVariation
BEFREE
In addition, mutations in the PARK2 gene (parkin) which causes autosomal recessive juvenile parkinsonism may present as Dopa-responsive dystonia.
19491146
2009
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000
GeneticVariation
UNIPROT
Linkage stratification and mutation analysis at the Parkin locus identifies mutation positive Parkinson's disease families.
12114481
2002
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000
GeneticVariation
UNIPROT
Heterozygosity for a mutation in the parkin gene leads to later onset Parkinson disease.
12629236
2003
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000
GeneticVariation
BEFREE
Since the discovery of the Parkin gene in the late 1990s, researchers in many countries have begun extensive research on this gene and found that in addition to AR-JP , the Parkin gene is associated with many diseases, including type 2 diabetes, leprosy, Alzheimer's, autism, and cancer.
31753025
2019
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000
GeneticVariation
CLINVAR
Structural and Functional Impact of Parkinson Disease-Associated Mutations in the E3 Ubiquitin Ligase Parkin.
25939424
2015
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000
GeneticVariation
BEFREE
Mutational dysfunction of PARKIN gene, which encodes a double RING finger protein and has ubiquitin ligase E3 activity, is the major cause of autosomal recessive juvenile Parkinsonism .
16339143
2006
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000
GeneticVariation
BEFREE
The PARK2 gene, previously identified as a mutated target in patients with autosomal recessive juvenile parkinsonism (ARJP ), has recently been found to be a candidate tumor suppressor gene in ovarian, breast, lung and hepatocellular carcinoma that maps to the third common fragile site (CFS) FRA6E.
16287063
2006
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000
GeneticVariation
UNIPROT
Relative high frequency of the c.255delA parkin gene mutation in Spanish patients with autosomal recessive parkinsonism.
12397156
2002
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000
GeneticVariation
BEFREE
We identified a mutant PARKIN protein in fibroblast cultures from a pair of siblings with ARJP who were homozygous for the exon 4-deleted Parkin gene.
19945426
2010
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000
GeneticVariation
UNIPROT
Ubiquitination of a new form of alpha-synuclein by parkin from human brain: implications for Parkinson's disease.
11431533
2001
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
1.000
GeneticVariation
BEFREE
While mutations in the Park-2 gene are the most frequent cause of autosomal-recessive juvenile parkinsonism (AR-JP ), they are also present in several forms of tauopathies.
18346797
2008
×
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
GeneticVariation
BEFREE
The phosphoUb binding site on PARKIN comprises a conserved phosphate pocket and harbours residues mutated in patients with AR-JP .
26161729
2015