-->

| PubMed | eMedicine | OMIM | Google | Google images | Yahoo images | YouTube |

  • Printer friendly version

UCHL1

MIM.191342 4p14

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.

UCHL1 is highly expressed in neurons representing 2% of neuronal proteins.

Expression in tumoral cells

- neuroblastoma
- Ewing sarcoma
- pPNET

Pathology

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

See also

- 8 mutated Parkinson genes known (2008)

SNCA PARK2 UCHL1 PINK1 DJ1 LRRK2 ATP13A2 HTRA2