MEDICAL DICTIONARY
PINK1: Abbreviation for PTEN-induced kinase 1. (Kinases are key regulators of cell function that catalyze the addition of a negatively charged phosphate group to a protein. This process of protein phosphorylation, in turn, regulates protein function in both normal and disease states.)
The PINK1 gene has been mapped to chromosome 1p36. This gene encodes a 581-amino acid protein which is active in mitochondria (structures responsible for energy production in cells). PINK1 was first described in 2001.
Mutations in PINK1 have been found in a rare familial form of Parkinson disease ( PARK6 ), providing a direct molecular link between mitochondria and the pathogenesis of Parkinson disease.
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