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PMID: 21103974
Keppler D
Multidrug resistance proteins (MRPs, ABCCs): importance for pathophysiology and drug therapy.
Handb Exp Pharmacol. 2011;(201):299-323.,
[PubMed]
Sentences
No.
Mutations
Sentence
Comment
265
ABCC11 p.Gly180Arg
X
ABCC11 p.Gly180Arg 21103974:265:83
status:
NEW
view ABCC11 p.Gly180Arg details
The single-nucleotide polymorphism 538G>A in the ABCC11 gene, corresponding to the
Gly180Arg
variant in human MRP8, determines the earwax type (Yoshiura et al. 2006; Toyoda et al. 2009) and prevents the secretion of amino acid conjugates determining human axillary odor (Martin et al. 2010).
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267
ABCC11 p.Gly180Arg
X
ABCC11 p.Gly180Arg 21103974:267:4
status:
NEW
view ABCC11 p.Gly180Arg details
The
Gly180Arg
variant lacks N-linked glycosylation and is recognized as a misfolded protein undergoing proteasomal degradation (Toyoda et al. 2009).
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