KEGG   VARIANT: 7345v1
Entry
7345v1                      Variant                                

Name
UCHL1 mutation
Gene
UCHL1  ubiquitin C-terminal hydrolase L1 [KO:K05611]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 191342
Network
nt06420  Ubiquitin-proteasome system
nt06463  Parkinson disease
  Element
N01028  Mutation-inactivated UCHL1 to UCHL1-mediated hydrolysis
Reference
  Authors
Miyake Y, Tanaka K, Fukushima W, Kiyohara C, Sasaki S, Tsuboi Y, Yamada T, Oeda T, Shimada H, Kawamura N, Sakae N, Fukuyama H, Hirota Y, Nagai M
  Title
UCHL1 S18Y variant is a risk factor for Parkinson's disease in Japan.
  Journal
BMC Neurol 12:62 (2012)
DOI:10.1186/1471-2377-12-62
Reference
PMID:9774100
  Authors
Leroy E, Boyer R, Auburger G, Leube B, Ulm G, Mezey E, Harta G, Brownstein MJ, Jonnalagada S, Chernova T, Dehejia A, Lavedan C, Gasser T, Steinbach PJ, Wilkinson KD, Polymeropoulos MH
  Title
The ubiquitin pathway in Parkinson's disease.
  Journal
Nature 395:451-2 (1998)
DOI:10.1038/26652
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