DISEASES

Disease-gene associations mined from literature

Literature on PINK1

PINK1 [ENSP00000364204]

Serine/threonine-protein kinase PINK1, mitochondrial; Protects against mitochondrial dysfunction during cellular stress by phosphorylating mitochondrial proteins. Involved in the clearance of damaged mitochondria via selective autophagy (mitophagy) by mediating activation and translocation of PRKN. Targets PRKN to dysfunctional depolarized mitochondria through the phosphorylation of MFN2. Activates PRKN in 2 steps: (1) by mediating phosphorylation at 'Ser-65' of PRKN and (2) mediating phosphorylation of ubiquitin, converting PRKN to its fully-active form. Required for ubiquinone reduction by mitochondrial complex I by mediating phosphorylation of complex I subunit NDUFA10 (By similarity); Parkinson disease associated genes

Synonyms:  PINK1,  PINK1p,  hPINK1,  Q9BXM7,  Q9BXM7p ...

Linkouts:  STRING  Pharos  UniProt  OMIM