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PMID: 18668432
Toyoda Y, Hagiya Y, Adachi T, Hoshijima K, Kuo MT, Ishikawa T
MRP class of human ATP binding cassette (ABC) transporters: historical background and new research directions.
Xenobiotica. 2008 Jul;38(7-8):833-62.,
[PubMed]
Sentences
No.
Mutations
Sentence
Comment
223
ABCC11 p.Gly180Arg
X
ABCC11 p.Gly180Arg 18668432:223:163
status:
NEW
view ABCC11 p.Gly180Arg details
By using a positional cloning and linkage disequilibrium analysis of genetics of earwax type, Yoshiura et al. (2006) revealed that the non-synonymous SNP (538G>A,
Gly180Arg
) in the MRP8 gene is the MRP class of human ABC transporters determinant of human earwax type.
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230
ABCC11 p.Gly180Arg
X
ABCC11 p.Gly180Arg 18668432:230:109
status:
NEW
view ABCC11 p.Gly180Arg details
Functional studies with MRP8-expressing LLC-PK1 cells demonstrated that cells expressing MRP8 with allele A (
Gly180Arg
) show a significantly lower level of cGMP transport, as compared with those expressing MRP8 wild-type with allele G (Yoshiura et al. 2006).
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233
ABCC11 p.Gly180Arg
X
ABCC11 p.Gly180Arg 18668432:233:37
status:
NEW
view ABCC11 p.Gly180Arg details
The non-synonymous SNP of 538 G > A (
Gly180Arg
) in the MRP8 gene exhibits wide ethnic differences in the allele frequency (Figure 5A).
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