PINK1
Chr 1PTEN induced kinase 1
Also known as: BRPK, PARK6
This gene encodes a serine/threonine protein kinase that localizes to mitochondria. It is thought to protect cells from stress-induced mitochondrial dysfunction. Mutations in this gene cause one form of autosomal recessive early-onset Parkinson disease. [provided by RefSeq, Jul 2008]
Primary Disease Associations & Inheritance
Clinical highlights
Some data sources returned errors (1)
omim: Error: OMIM fetch failed: 429
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.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Mitophagy and Mitochondrial DNA Dynamics During Ramadan Dry Fasting vs 16:8 Time-Restricted Feeding
NOT YET RECRUITINGMolecular and Functional Imaging in Monogenic PD.
RECRUITINGLongitudinal Natural History Protocol for PRKN- and PINK1-Linked PD
NOT YET RECRUITINGExternal Resources
Links to major genomics databases and tools