UCHL1 mutation

Species: Human (Taxid: 9606)
Factor: UCHL1
Manipulation: Loss-of-Function, Mutation
Effect:

UCHL1 is assoicated with Parkinson's disease [9774100]. UCHL1 belongs to a family of de-ubiquitinating enzymes responsible for the hydrolysis of bonds between ubiquitin molecules and small adducts [11084366]. Decreased activity due to mutation may result in decreased labeling of abnormal proteins for clearance.


Aging Relevance Analysis/Source:
  • GenAge
  • GenDR



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