Ontology highlight
ABSTRACT:
SUBMITTER: Woodward OM
PROVIDER: S-EPMC3612674 | biostudies-literature | 2013 Mar
REPOSITORIES: biostudies-literature
Woodward Owen M OM Tukaye Deepali N DN Cui Jinming J Greenwell Patrick P Constantoulakis Leeza M LM Parker Benjamin S BS Rao Anjana A Köttgen Michael M Maloney Peter C PC Guggino William B WB
Proceedings of the National Academy of Sciences of the United States of America 20130314 13
The multidrug ATP-binding cassette, subfamily G, 2 (ABCG2) transporter was recently identified as an important human urate transporter, and a common mutation, a Gln to Lys substitution at position 141 (Q141K), was shown to cause hyperuricemia and gout. The nature of the Q141K defect, however, remains undefined. Here we explore the Q141K ABCG2 mutation using a comparative approach, contrasting it with another disease-causing mutation in an ABC transporter, the deletion of Phe-508 (ΔF508) in the c ...[more]