PMID: 23665398

Dankers AC, Mutsaers HA, Dijkman HB, van den Heuvel LP, Hoenderop JG, Sweep FC, Russel FG, Masereeuw R
Hyperuricemia influences tryptophan metabolism via inhibition of multidrug resistance protein 4 (MRP4) and breast cancer resistance protein (BCRP).
Biochim Biophys Acta. 2013 Oct;1832(10):1715-22. doi: 10.1016/j.bbadis.2013.05.002. Epub 2013 May 9., [PubMed]
Sentences
No. Mutations Sentence Comment
37 ABCG2 p.Gln141Lys
X
ABCG2 p.Gln141Lys 23665398:37:248
status: NEW
view ABCG2 p.Gln141Lys details
The vital role of transporters in uric acid homeostasis can clearly be observed in patients suffering from hyperuricemia due to single nucleotide polymorphisms (SNPs) that render the transporters inactive, such as the common SNP C421A encoding the Q141K mutation of BCRP [21,22,24] and several genetic variants for SLC2A9 [19]. Login to comment
224 ABCG2 p.Gln141Lys
X
ABCG2 p.Gln141Lys 23665398:224:122
status: NEW
view ABCG2 p.Gln141Lys details
For instance, Woodward et al. [22], described that the common single nucleotide polymorphism (SNP) rs2231142 encoding the Q141K mutation of BCRP caused hyperuricemia-based gout. Login to comment
225 ABCG2 p.Gln141Lys
X
ABCG2 p.Gln141Lys 23665398:225:31
status: NEW
view ABCG2 p.Gln141Lys details
Also in a Japanese population, Q141K was shown to be a common dysfunctional form of BCRP causing gout [21]. Login to comment