KEGG VARIANT: 5071v1

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

PMID:27177722

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

PMID:10939576

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

Ann Neurol 48:245-50 (2000)
DOI:10.1002/1531-8249(200008)48:2<245::AID-ANA15>3.0.CO;2-2

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

PMID:16049031

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

All links

Gene (1)   
   OMIMVAR (1)   
Literature (4)   
   PubMed (4)   
All databases (5)   

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