PRKN  parkin RBR E3 ubiquitin protein ligase [KO:K04556]

hsa_var Human gene variants (Homo sapiens)

mutations
OmimVar: 602544

PMID:27177722

Chen H, Huang X, Yuan L, Xia H, Xu H, Yang Y, Zheng W, Deng H

A homozygous parkin p.G284R mutation in a Chinese family with autosomal recessive juvenile parkinsonism.

Neurosci Lett 624:100-4 (2016)
DOI:10.1016/j.neulet.2016.05.011

PMID:10939576

Maruyama M, Ikeuchi T, Saito M, Ishikawa A, Yuasa T, Tanaka H, Hayashi S, Wakabayashi K, Takahashi H, Tsuji S

Novel mutations, pseudo-dominant inheritance, and possible familial affects in patients with autosomal recessive juvenile parkinsonism.

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

PMID:9731209

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

Point mutations (Thr240Arg and Gln311Stop) [correction of Thr240Arg and Ala311Stop] in the Parkin gene.

Biochem Biophys Res Commun 249:754-8 (1998)
DOI:10.1006/bbrc.1998.9134

PMID:16049031

Sriram SR, Li X, Ko HS, Chung KK, Wong E, Lim KL, Dawson VL, Dawson TM

Familial-associated mutations differentially disrupt the solubility, localization, binding and ubiquitination properties of parkin.

Hum Mol Genet 14:2571-86 (2005)
DOI:10.1093/hmg/ddi292