Aliases for PINK1 Gene
External Ids for PINK1 Gene
Previous HGNC Symbols for PINK1 Gene
Previous GeneCards Identifiers for PINK1 Gene
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]
GeneCards Summary for PINK1 Gene
PINK1 (PTEN Induced Putative Kinase 1) is a Protein Coding gene. Diseases associated with PINK1 include Parkinson Disease 6, Early Onset and Parkinson Disease, Juvenile, Type 2. Among its related pathways are Parkinsons Disease Pathway and Chks in Checkpoint Regulation. GO annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity.
UniProtKB/Swiss-Prot for PINK1 Gene
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 PARK2. Targets PARK2 to dysfunctional depolarized mitochondria through the phosphorylation of MFN2. Activates PARK2 in 2 steps: (1) by mediating phosphorylation at Ser-65 of PARK2 and (2) mediating phosphorylation of ubiquitin, converting PARK2 to its fully-active form (PubMed:24660806, PubMed:24751536, PubMed:24784582, PubMed:25527291).