Ubiquitin carboxy-terminal hydrolase L1
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ubiquitin carboxyl-terminal esterase L1
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| Identifiers | |
| Symbol | UCHL1 PARK5 |
| HUGO | 12513 |
| Entrez | 7345 |
| OMIM | 191342 |
| RefSeq | NM_004181 |
| UniProt | P09936 |
| Other data | |
| EC number | 3.2.1.15 |
| Locus | Chr. 4 p14 |
Ubiquitin carboxy-terminal hydrolase L1 (UCH-L1) (EC 3.1.2.15) is a deubiqutinating enzyme.
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.[1]
[edit] References
- ^ Gong,B, Cao,Z Zheng,P, Vitolo,O.P, Liu,S Staniszewski,A, Moolman,D Zhang,H Shelanski,M, and Arancio,O "Ubiquitin Hydrolase Uch-L1 Rescues β-Amyloid-Induced Decreases in Synaptic Function and Contextual Memory", Cell, Vol 126, 775-788, 25 August 2006
[edit] External links
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