OrganismHomo sapiens
Aging PhenotypeN/A
Allele TypeRecessive
DescriptionLoss of function in Parkin results in autosomal recessive juvenile parkinsonism, a form of Parkinson`s disease with age of onset below 40 years. Phenotypes include resting tremor, rigidity, bradykinesia and postural instability is 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-protein ligase.
Other PhenotypesBoth deletion and point mutations have been found (Hattori et al, 1998). Twelve exons spanning over 1.5 Mb encodes a protein of 465 amino acids with a molecular mass of 52,000 Mr. Parkin protein has a ubiquitin-like domain in the amino-terminal and a RING-in-between-RINGS-RING structure (Kitada et al., 1998).
HomologsS.c. YKR017, UBI4, RPL40B
C.e. KO8E3.7, Y73F8A.34
D.m. CG10523, ARI, CG12363
R.n. PARK, RN.4300, RPS27A
H.s. ARIH2, RNF14
Primary ReferenceKitada, T., Asakawa, S., Hattori, N., Matsumine, H., Yamamura, Y., Minoshima, S., Yokochi, M., Mizuno, Y., and Shimizu, N. (1998). Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism. Nature 392, 605-8. [Abstract]
Other ReferencesHattori, N., Kitada, T., Matsumine, H., Asakawa, S., Yamamura, Y., Yoshino, H., Kobayashi, T., Yokochi, M., Wang, M., Yoritaka, A., Kondo, T., Kuzuhara, S., Nakamura, S., Shimizu, N., and Mizuno, Y. (1998). Molecular genetic analysis of a novel Parkin gen [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 LinksOMIM:
KeywordsParkinson's disease, H. sapiens, human