Biological Activity
The PRKN (parkin RBR E3 ubiquitin protein ligase) gene encodes an E3 ubiquitin ligase th at is involved in the maintenance of dopamine (DA) neuronal homeostasis. It ubiquitinates target proteins by interacting with ubiquitin-conjugating enzymes, such as UBCH7 (Ubiquitin-conjugating enzyme E2 L3) and UBCH8 (Ubiquitin/ISG15-conjugating enzyme E2 L6). Mutations in this gene have been linked to early-onset and progression of Parkinson′s Disease. Variations in this gene have also been associated with glioblastoma and other human malignancies.
