PRKN parkin RBR E3 ubiquitin protein ligase
Gene ID: 5071, updated on 10-Oct-2024Gene type: protein coding
Also known as: PDJ; AR-JP; LPRS2; PARK2
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- Go to complete Gene record for PRKN
- Go to Variation Viewer for PRKN variants
Summary
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]
Associated conditions
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| Description | Tests |
|---|---|
| A genome-wide association study in the genetic analysis of idiopathic thrombophilia project suggests sex-specific regulation of mitochondrial DNA levels. GeneReviews: Not available | |
| Autosomal recessive juvenile Parkinson disease 2 MedGen: C1868675OMIM: 600116GeneReviews: Parkinson Disease Overview, Parkin Type of Early-Onset Parkinson Disease | See labs |
| Genetics meets metabolomics: a genome-wide association study of metabolite profiles in human serum. GeneReviews: Not available | |
| Genome-wide association study of pancreatic cancer in Japanese population. GeneReviews: Not available | |
| Linkage and association of successful aging to the 6q25 region in large Amish kindreds. GeneReviews: Not available | |
| Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. GeneReviews: Not available | |
| Lung cancer | See labs |
| Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects. GeneReviews: Not available | |
| Ovarian neoplasm MedGen: C0919267GeneReviews: Not available | See labs |
Genomic context
- Location:
- 6q26
- Sequence:
- Chromosome: 6; NC_000006.12 (161347417..162727766, complement)
- Total number of exons:
- 13
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for PRKN variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- Movement Disorder Society Genetic mutation database - PRKN
- OMIMLink to related OMIM entry
- Parkinson's disease Mutation Database
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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