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PMID: 21740521
Chen ZS, Tiwari AK
Multidrug resistance proteins (MRPs/ABCCs) in cancer chemotherapy and genetic diseases.
FEBS J. 2011 Sep;278(18):3226-45. doi: 10.1111/j.1742-4658.2011.08235.x. Epub 2011 Aug 1.,
[PubMed]
Sentences
No.
Mutations
Sentence
Comment
242
ABCC11 p.Gly180Arg
X
ABCC11 p.Gly180Arg 21740521:242:223
status:
NEW
view ABCC11 p.Gly180Arg details
MRP8 / ABCC11 and dry /wet ear wax Insight into a physiological role for MRP8 in cerumen (ear wax) secretion by the ceruminous apocrine glands was revealed by the identification of a single nucleotide polymorphism, 538G>A (
Gly180Arg
) in the MRP8 gene, which was associated with the production of wet rather than dry ear wax [184].
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248
ABCC11 p.Gly180Arg
X
ABCC11 p.Gly180Arg 21740521:248:34
status:
NEW
view ABCC11 p.Gly180Arg details
In membrane vesicles studies, the
G180R
mutant of MRP8 was unable to transport cAMP, again supporting the notion that a deficiency of MRP8 transport activity is responsible for the dry ear wax type.
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