PMID: 12388192

Keitel V, Nies AT, Brom M, Hummel-Eisenbeiss J, Spring H, Keppler D
A common Dubin-Johnson syndrome mutation impairs protein maturation and transport activity of MRP2 (ABCC2).
Am J Physiol Gastrointest Liver Physiol. 2003 Jan;284(1):G165-74. Epub 2002 Oct 2., [PubMed]
Sentences
No. Mutations Sentence Comment
8 ABCC2 p.Ile1173Phe
X
ABCC2 p.Ile1173Phe 12388192:8:138
status: NEW
view ABCC2 p.Ile1173Phe details
 In this work, we analyzed a relatively frequent Dubin-Johnson syndrome mutation that leads to an exchange of two hydrophobic amino acids, isoleucine 1173 to phenylalanine (MRP2I1173F), in a predicted extracellular loop of MRP2. Login to comment