| Home Page |
| References | OMIM | Gene | GeneReviews | HGMD | HGNC |
| GENATLAS PHENOTYPE |
| last update : 04/10/2008 |
| Symbol | PARK5 |
| Location | 4p13 |
| Name | Parkinson disease 5 |
| Corresponding gene | UCHL1 |
| Main clinical features | Lewy bodies segregating with postural tremor, rigidity, bradykinesia, and postural instability with a beneficial response to L-dopamine replacement therapy |
| Genetic determination | autosomal dominant |
| Function/system disorder | neurology |
| Type | disease |
| Gene product |
| Name | ubiquitin carboxy-terminal esterase L1 |
| Mechanism(s) |
| Gene mutation | Chromosome rearrangement | Effect | Comments | |
|---|---|---|---|---|
| missense | I93M, form with onset between 55 and 58 years |
| Remark(s) | aberrant interaction of mutant UCHL1 with chaperone-mediated autophagy machinery, at least in part, underlies the pathogenesis of familial Parkinson disease |