Gene Symbol | UCHL1 |
Entrez Gene ID | 7345 |
Full Name | ubiquitin C-terminal hydrolase L1 |
Synonyms | HEL-117,HEL-S-53,NDGOA,PARK5,PGP 9.5,PGP9.5,PGP95,SPG79,Uch-L1 |
General protein information |
|
Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | The protein encoded by this gene belongs to the peptidase C12 family. This enzyme is a thiol protease that hydrolyzes a peptide bond at the C-terminal glycine of ubiquitin. This gene is specifically expressed in the neurons and in cells of the diffuse neuroendocrine system. Mutations in this gene may be associated with Parkinson disease.[provided by RefSeq, Sep 2009]. |
Disorder MIM: | |
Disorder Html: | {?Parkinson disease 5, susceptibility to}, 613643 (3); Spastic paraplegia 79, autosomal recessive, 615491 (3) |