PRKN

parkin RBR E3 ubiquitin protein ligase

2 disorders 2 causative 6q26 gene with protein product

HGNC:8607 Monarch NCBI Gene 5071 ENSG00000185345 UniProt O60260 OMIM 602544

Previous symbols: PARK2. Aliases: PDJ, AR-JP, parkin.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

Disorder	Relationship	Where the gene appears
Parkinson's Disease	causative	mechanism: Autophagy-Lysosome Pathway Dysfunction; Mitochondrial Dysfunction discussion: (unnamed)
PRKN-Related Juvenile Parkinson Disease	causative germline	mechanism: PRKN Biallelic Loss of Function

ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen disease	MOI	Classification	dismech entry
Parkinson disease MONDO:0005180	AR	Definitive 2023-01-18	Parkinson's Disease causative

Mechanism modules · computed from kb/

disabled_macroautophagy via Parkinson's Disease
parkinsonism_dopaminergic_degeneration via Parkinson's Disease

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.