PRKN Chromosome 6
Parkin RBR E3 ubiquitin protein ligase
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What This Gene Does
The precise function of this gene is unknown; however, the encoded protein is a component of a multiprotein E3 ubiquitin ligase complex that mediates the targeting of substrate proteins for proteasomal degradation. Mutations in this gene are known to cause Parkinson disease and autosomal recessive juvenile Parkinson disease. Alternative splicing of this gene produces multiple transcript variants encoding distinct isoforms. Additional splice variants of this gene have been described but currently lack transcript support. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Ring finger proteins|RBR E3 ubiquitin ligases"
Locus Type
gene with protein product
Location
6q26
Ensembl
ENSG00000185345
Associated Conditions (18)
Young-onset Parkinson disease
Autosomal recessive juvenile Parkinson disease 2
Ovarian neoplasm
Uterine carcinosarcoma
Parkinson disease 12
Lung cancer
Ovarian cancer
Ovarian serous cystadenocarcinoma
PRKN-related disorder
Inborn genetic diseases
Autism spectrum disorder
Lung adenocarcinoma
Leprosy
susceptibility to
2
Lung carcinoma
See cases
Autosomal dominant Parkinson disease 1
Key Variants
RS1226997153
Conflicting classifications of pathogenicity
Young-onset Parkinson disease, Young-onset Parkinson disease
Health Risk
RS137853054
Conflicting classifications of pathogenicity
Autosomal recessive juvenile Parkinson disease 2, Autosomal recessive juvenile Parkinson disease 2, Ovarian neoplasm
Health Risk
RS140590552
Conflicting classifications of pathogenicity
Autosomal recessive juvenile Parkinson disease 2, Autosomal recessive juvenile Parkinson disease 2
Health Risk
RS141366047
Conflicting classifications of pathogenicity
Autosomal recessive juvenile Parkinson disease 2, Autosomal recessive juvenile Parkinson disease 2
Health Risk
RS143477190
Conflicting classifications of pathogenicity
Autosomal recessive juvenile Parkinson disease 2, Autosomal recessive juvenile Parkinson disease 2
Health Risk
RS146288080
Conflicting classifications of pathogenicity
Uterine carcinosarcoma, Uterine carcinosarcoma
Health Risk
RS147121590
Conflicting classifications of pathogenicity
Autosomal recessive juvenile Parkinson disease 2, Autosomal recessive juvenile Parkinson disease 2
Health Risk
RS148990138
Conflicting classifications of pathogenicity
Autosomal recessive juvenile Parkinson disease 2, Autosomal recessive juvenile Parkinson disease 2
Health Risk
RS149953814
Conflicting classifications of pathogenicity
Autosomal recessive juvenile Parkinson disease 2, Parkinson disease 12, Lung cancer
Health Risk
RS150562946
Conflicting classifications of pathogenicity
Autosomal recessive juvenile Parkinson disease 2, Autosomal recessive juvenile Parkinson disease 2
Health Risk
RS182893847
Conflicting classifications of pathogenicity
Health Risk
RS199657839
Conflicting classifications of pathogenicity
Autosomal recessive juvenile Parkinson disease 2, Autosomal recessive juvenile Parkinson disease 2
Health Risk
All Variants (69)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS751037529 | Health Risk | Pathogenic | Autosomal recessive juvenile Parkinson disease 2, Autism spectrum disorder, Autosomal recessive juvenile Parkinson disease 2 |
| RS754809877 | Health Risk | Pathogenic | Autosomal recessive juvenile Parkinson disease 2, Lung cancer, Ovarian cancer |
| RS765860776 | Health Risk | Pathogenic | — |
| RS770591350 | Health Risk | Pathogenic | — |
| RS772074730 | Health Risk | Pathogenic | — |
| RS961239925 | Health Risk | Pathogenic | — |
| RS1231455463 | Health Risk | Pathogenic/Likely pathogenic | Lung adenocarcinoma, Lung adenocarcinoma |
| RS137853059 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive juvenile Parkinson disease 2, Autosomal recessive juvenile Parkinson disease 2 |
| RS137853060 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive juvenile Parkinson disease 2, Lung cancer, Ovarian cancer |
| RS1440010564 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive juvenile Parkinson disease 2, Ovarian neoplasm, Lung cancer |
| RS147757966 | Health Risk | Pathogenic/Likely pathogenic | PRKN-related disorder, Lung cancer, Autosomal recessive juvenile Parkinson disease 2 |
| RS191486604 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive juvenile Parkinson disease 2, PRKN-related disorder, Young-onset Parkinson disease |
| RS34424986 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive juvenile Parkinson disease 2, Young-onset Parkinson disease, Ovarian neoplasm |
| RS746646126 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive juvenile Parkinson disease 2, Lung cancer, Ovarian cancer |
| RS747427602 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive juvenile Parkinson disease 2, Ovarian cancer, Lung cancer |
| RS771529549 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive juvenile Parkinson disease 2, Lung cancer, Ovarian cancer |
| RS771586218 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive juvenile Parkinson disease 2, Autosomal dominant Parkinson disease 1, Autosomal recessive juvenile Parkinson disease 2 |
| RS772786691 | Health Risk | Pathogenic/Likely pathogenic | Young-onset Parkinson disease, Young-onset Parkinson disease |
| RS778305273 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive juvenile Parkinson disease 2, Ovarian cancer, Lung cancer |