Background: Protects against mitochondrial dysfunction during cellular stress, potentially by phosphorylating mitochondrial proteins. Involved in the clearance of damaged mitochondria via selective autophagy (mitophagy). It is necessary for PARK2 recruitment to dysfunctional mitochondria to initiate their degradation. Defects in PINK1 are the cause of Parkinson disease type 6 (PARK6). A neurodegenerative disorder characterized by parkinsonian signs such as rigidity, resting tremor and bradykinesia. A subset of patients manifest additional symptoms including hyperreflexia, autonomic instability, dementia and psychiatric disturbances. Symptoms show diurnal fluctuation and can improve after sleep.
Immunogen: Synthetic peptide derived from the human PINK1 protein. Control for antibody to E417G mutant (Cat. No. X2763P).
Purification Method: Antigen Immunoaffiinity Purification.
Formulation: Provided as solution in phosphate buffered saline with 0.08% sodium azide.
References: 1. Matsuda, N., et al. ‘PINK1 stabilized by mitochondrial depolarization recruits Parkin to damaged mitochondria and activates latent Parkin for mitophagy.’ J. Cell. Biol., 189, 211-221 (2010)
2. Vives-Bauza, C., et al. ‘PINK1-dependent recruitment of Parkin to mitochondria in mitophagy.’ Proc. Natl. Acad. Sci. USA, 107, 378-383 (2010)
3. Valente, E.M., et al. ‘PINK1 mutations are associated with sporadic early-onset parkinsonism.’ Ann. Neurol., 56, 336-341 (2004)
4. Geisler, S., et al. ‘The PINK1/Parkin-mediated mitophagy is compromised by PD-associated mutations.’ Autophagy, 6, 871-878 (2010)
5. Valente, E.M., et al. ‘Hereditary early-onset Parkinson's disease caused by mutations in PINK1.’ Science, 304, 1158-1160 (2004)
6. Silvestri, L., et al. ‘Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism.’ Hum. Mol. Genet., 14, 3477-3492 (2005).
UniProt: Q9BXM7.
Caution: This product is intended FOR RESEARCH USE ONLY, and FOR TESTS IN VITRO, not for use in diagnostic or therapeutic procedures involving humans or animals.
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