Parkin
Parkin
Parkin is a protein that in humans is encoded by the PARK2 gene. It is a component of a multiprotein E3 ubiquitin ligase complex that mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Mutations in the PARK2 gene are associated with Parkinson's disease, particularly a form known as autosomal recessive juvenile Parkinsonism.
Function[edit | edit source]
Parkin is involved in the ubiquitin-proteasome system, which is responsible for the degradation of proteins within the cell. It functions as an E3 ubiquitin ligase, which means it helps attach ubiquitin molecules to proteins, marking them for degradation by the proteasome. This process is crucial for maintaining cellular protein homeostasis and regulating various cellular processes.
Clinical Significance[edit | edit source]
Mutations in the PARK2 gene can lead to a loss of function of the parkin protein, resulting in the accumulation of damaged or misfolded proteins. This accumulation is toxic to neurons and is implicated in the pathogenesis of Parkinson's disease. Parkin mutations are one of the most common genetic causes of early-onset Parkinson's disease.
Parkinson's Disease[edit | edit source]
Parkinson's disease is a neurodegenerative disorder characterized by the progressive loss of dopaminergic neurons in the substantia nigra of the brain. Symptoms include tremor, rigidity, bradykinesia, and postural instability. The role of parkin in the disease is linked to its function in protein degradation and mitochondrial quality control.
Research[edit | edit source]
Research into parkin and its role in Parkinson's disease is ongoing. Studies are focused on understanding how parkin mutations lead to neuronal death and exploring potential therapeutic strategies to enhance parkin function or compensate for its loss.
See Also[edit | edit source]
References[edit | edit source]
External Links[edit | edit source]
- [Parkin Gene - Genetics Home Reference](https://ghr.nlm.nih.gov/gene/PARK2)
- [Parkinson's Disease - MedlinePlus](https://medlineplus.gov/parkinsonsdisease.html)
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Contributors: Prab R. Tumpati, MD
