KEGG   VARIANT: 5071v1
Entry
5071v1                      Variant                                

Name
PRKN mutation
Gene
PRKN  parkin RBR E3 ubiquitin protein ligase [KO:K04556]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 602544
Network
nt06410  Calcium signaling
nt06414  Apoptosis
nt06420  Ubiquitin-proteasome system
nt06421  Mitophagy
nt06422  Dopamine metabolism
nt06463  Parkinson disease
  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
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
Neurosci Lett 624:100-4 (2016)
DOI:10.1016/j.neulet.2016.05.011
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
PMID:9731209
  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
Biochem Biophys Res Commun 249:754-8 (1998)
DOI:10.1006/bbrc.1998.9134
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
Hum Mol Genet 14:2571-86 (2005)
DOI:10.1093/hmg/ddi292
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