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.
Read more about this topic: Ubiquitin Carboxy-terminal Hydrolase L1
Famous quotes containing the word pathology:
“It is often said that Poland is a country where there is anti-semitism and no Jews, which is pathology in its purest state.”
—Bronislaw Geremek (b. 1932)