KEGG   VARIANT: 5071v1
Entry
5071v1                      Variant                                
Name
PRKN mutation
Type
Loss of function
Gene
PRKN  parkin RBR E3 ubiquitin protein ligase [KO:K04556]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 602544
Network
nt06028  Dopamine and serotonin metabolism
nt06463  Parkinson disease
nt06466  Pathways of neurodegeneration
nt06536  Mitophagy
Disease
H00057  Parkinson disease
H01600  Parkinsonian syndrome
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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