OrganismHomo sapiens
Aging PhenotypeN/A
Allele TypeDominant
DescriptionAssociated with Parkinson`s disease (Leroy, 1998). Phenotypes include resting tremor, rigidity, bradykinesia and postural instability associated with selective neurodegeneration of the pigmented neurons in the brain stem (the substantia nigra and the locus coerueus) and the presence of intracytoplasmic inclusion bodies (Lewy bodies) (Yamamura et al., 1973).
Gene FunctionUbiquitin thiol esterase. Neuron specific protease (Day et al., 1990).
Other PhenotypesProtein belongs to a family of de-ubiquitinating enzymes responsible for the hydrolysis of bonds between ubiquitin molecules and small adducts (Pickart, 2000). The decreased activity of mutant proteins may result in decreased labeling of abnormal proteins for clearance.
HomologsS.c. YUH1
S.p. UCH1, UCH2
C.e. F46E10.8, Y40G12A.1, C08B11.7
D.m. UCH, CG8445, UCH-L3
M.m. UCHL1, UCHL3, UCH37
H.s. UCHL3, UCH37, BAP1
Primary ReferenceLeroy, E., Boyer, R., Auburger, G., Leube, B., Ulm, G., Mezey, E., Harta, G., Brownstein, M. J., Jonnalagada, S., Chernova, T., Dehejia, A., Lavedan, C., Gasser, T., Steinbach, P. J., Wilkinson, K. D., and Polymeropoulos, M. H. (1998). The ubiquitin pathw [Abstract]
Other ReferencesPickart, C. M. (2000). Ubiquitin in chains. Trends Biochem Sci 25, 544-8. [Abstract]
Day, I. N., Hinks, L. J., and Thompson, R. J. (1990). The structure of the human gene encoding protein gene product 9.5 (PGP9.5), a neuron-specific ubiquitin C-terminal hydrolase. Biochem J 268, 521-4. [Abstract]
Yamamura, Y., Sobue, I., Ando, K., Iida, M., and Yanagi, T. (1973). Paralysis agitans of early onset with marked diurnal fluctuation of symptoms. Neurology 23, 239-44. [Abstract]
Relevant LinksLocusLink:
KeywordsParkinson's disease, H. sapiens, human, neuron, neurodenerative