VARIANT: 5071v1 Help
Entry Name Gene PRKN parkin RBR E3 ubiquitin protein ligase [KO:
K04556 ]
Organism hsa_var Human gene variants (Homo sapiens)
Variation Network Element N01020 Mutation-inactivated PRKN to Parkin-mediated ubiquitination
N01022 Mutation-inactivated PRKN to Parkin-mediated ubiquitination
N01024 Mutation-inactivated PRKN to Parkin-mediated ubiquitination
N01026 Mutation-inactivated PRKN to Parkin-mediated ubiquitination
N01032 Mutation-inactivated PRKN to mGluR1 signaling pathway
N01039 Mutation-inactivated PRKN to DOPAL generation
N01049 Mutation-inactivated PRKN to intrinsic apoptotic pathway
N01054 Mutation-inactivated PRKN to PINK1-Parkin-mediated MFN2 degradation
Disease Reference Authors Chen H, Huang X, Yuan L, Xia H, Xu H, Yang Y, Zheng W, Deng H
Title A homozygous parkin p.G284R mutation in a Chinese family with autosomal recessive juvenile parkinsonism.
Journal Reference Authors Maruyama M, Ikeuchi T, Saito M, Ishikawa A, Yuasa T, Tanaka H, Hayashi S, Wakabayashi K, Takahashi H, Tsuji S
Title Novel mutations, pseudo-dominant inheritance, and possible familial affects in patients with autosomal recessive juvenile parkinsonism.
Journal Reference Authors Hattori N, Matsumine H, Asakawa S, Kitada T, Yoshino H, Elibol B, Brookes AJ, Yamamura Y, Kobayashi T, Wang M, Yoritaka A, Minoshima S, Shimizu N, Mizuno Y
Title Point mutations (Thr240Arg and Gln311Stop) [correction of Thr240Arg and Ala311Stop] in the Parkin gene.
Journal Reference Authors Sriram SR, Li X, Ko HS, Chung KK, Wong E, Lim KL, Dawson VL, Dawson TM
Title Familial-associated mutations differentially disrupt the solubility, localization, binding and ubiquitination properties of parkin.
Journal LinkDB All DBs
