PINK1
Chr 1ARPTEN induced kinase 1
Also known as: BRPK, PARK6
The protein is a serine/threonine kinase that acts as a sensor of mitochondrial damage and coordinates mitochondrial quality control mechanisms, including the removal of dysfunctional mitochondria through mitophagy. Mutations cause autosomal recessive early-onset Parkinson disease 6, typically manifesting in childhood or young adulthood. The gene shows very low constraint against loss-of-function variants (pLI near zero), consistent with its recessive inheritance pattern where single functional copies are sufficient.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
PINK1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Molecular and Functional Imaging in Monogenic PD.
RECRUITINGAquaporin-4 Single Nucleotide Polymorphisms in Patients With Idiopathic and Familial Parkinson's Disease
ACTIVE NOT RECRUITINGExternal Resources
Links to major genomics databases and tools