PRKN

About PRKN

PRKN on chromosome 6q26 encodes parkin, an E3 ubiquitin ligase that tags proteins for degradation. Working with the kinase PINK1, parkin marks damaged mitochondria for removal by a quality control process called mitophagy. Variants on both copies of PRKN are the most common known cause of autosomal recessive early onset Parkinson disease, typically beginning before age 40 and sometimes in childhood or adolescence. Compared with typical Parkinson disease, it tends to progress slowly, responds well to levodopa, and often lacks the Lewy bodies seen in most cases. The gene, previously called PARK2, was identified in 1998 by researchers studying Japanese families. Because PRKN spans a very large genomic region, deletions and duplications of whole exons are common disease causing variants, so testing typically includes dosage analysis as well as sequencing.