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10.1021/jp507529f 56 WangX.ZhuM.HjorthE.Corts-ToroV.EyjolfsdottirH.GraffC.et al

It scavenges ROS through the nucleophilic attack by the thiol group (-SH) of its cysteine residue (4)

It is caused by mutations in ABCG5 or ABG8 (named for ATP-binding cassettes 5 and 8, respectively), located on chromosome 2p21
