UCHL1 is a member of a gene family whose products hydrolyze small C-terminal adducts of ubiquitin to generate the ubiquitin monomer.

Expression in normal cells

 Expression of UCHL1 is highly specific to neurons and to cells of the diffuse neuroendocrine system and their tumors. It is present in all neurons.

Expression in tumoral cells

 neuroblastoma
 Ewing sarcoma
 pPNET

Pathology

 germline mutations in familial Parkinson disease (MIM.168600)
 polymorphisms in resistance to Parkinson disease