Ubiquitin carboxy-terminal hydrolase L1

Ubiquitin carboxy-terminal hydrolase L1 (UCH-L1) is a deubiqutinating enzyme.

Pathology
A point mutation (I93M) in the gene encoding this protein is implicated as the cause of Parkinson's disease in one kindred.

Furthermore, a polymorphism (S18Y) in this gene has been found to be associated with a reduced risk for Parkinson's disease.

The gene is also associated with the Alzheimer's disease, and required for normal synaptic and cognitive function. (Gong. et al 2006)