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  • Human ABCB4 wild-type allele is located in the vicinity of 7q21.1 and is approximately 79 kb in length. This allele, which encodes multidrug resistance protein 3, plays a role in the intramembrane transport of phosphatidylcholine and the export of organic anions and drugs across the plasma membrane. Mutation of the gene is associated with progressive familial intrahepatic cholestasis 2, intrahepatic cholestasis of pregnancy 3 and gall bladder disease 3.
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