The histidin-loop is essential for transport activity of human MDR3. A novel mutation of MDR3 in a patient with progressive familial intrahepatic cholestasis type 3

Article ID	Journal	Published Year	Pages	File Type
5907297	Gene	2012	5 Pages	PDF

Abstract

âº A new disease-causing mutation of the phospholipid transporter MDR3 is reported. âº This is the first mutation of the histidine-loop identified in a human ABC transporter. âº The findings approve the importance of the histidine-loop of ABC transporter. âº Ursodeoxycholic acid is an appropriate treatment for this particular mutation of MDR3.

Keywords

WBC NBD HAV UDCA PFIC BSEP MDR3 TSH PSC GGT Ursodeoxycholic acid nucleotide-binding domain Childhood White blood cell count Bile salt export pump Primary sclerosing cholangitis cholestasis Progressive familial intrahepatic cholestasis Gamma-glutamyltransferase

Related Topics

Life Sciences Biochemistry, Genetics and Molecular Biology Genetics

Preview

The histidin-loop is essential for transport activity of human MDR3. A novel mutation of MDR3 in a patient with progressive familial intrahepatic cholestasis type 3

Authors

Tamar Dzagania, Guido Engelmann, Dieter Häussinger, Lutz Schmitt, Christa Flechtenmacher, Irakli Rtskhiladze, Ralf Kubitz,