PMID: 25088257

Nakamura N, Harada K, Kato M, Hirose S
Ubiquitin-specific protease 19 regulates the stability of the E3 ubiquitin ligase MARCH6.
Exp Cell Res. 2014 Oct 15;328(1):207-16. doi: 10.1016/j.yexcr.2014.07.025. Epub 2014 Aug 1., [PubMed]
Sentences
No. Mutations Sentence Comment
52 ABCB11 p.Gly238Val
X
ABCB11 p.Gly238Val 25088257:52:94
status: NEW
view ABCB11 p.Gly238Val details
 FLAG-ABCB11G238V was constructed by cloning cDNA fragments encoding human ABCB11 containing a G238V mutation into the KpnI/XbaI sites of p3  FLAGCMV-10. Login to comment 146 ABCB11 p.Gly238Val
X
ABCB11 p.Gly238Val 25088257:146:156
status: NEW
view ABCB11 p.Gly238Val details
 Knockdown of USP19 stabilizes mutant ABCB11 It has been shown that MARCH6 promotes degradation of the bile salt export pump (Bsep or ABCB11) containing the G238V mutation, which causes progressive familial intrahepatic cholestasis type II [38]. Login to comment