Catalog

Parkinson disease UCHL-1 gene mutations 4p14

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Link to WHO Definition

Parkinson disease UCHL-1 gene mutations 4p14 – http://id.who.int/icd/entity/1067231592

Mutations in ubiquitin carboxyterminal hydrolase L1 (UCHL-1) lead to dysfunction of the ubiquitin proteasome system. It has been hypothesized that UCHL-1 gene mutations on chromosome 4p14 may contribute to the etiology of Parkinson's disease due to reduced removal of synuclein by proteasomes.