ABCB4
MIM.171060 7q21.1
Anomalies:
MDR3/ABCB4 germline mutations in
- progressive familial intrahepatic cholestasis type 3 (PFIC3) (MIM.602347)
- intrahepatic cholestasis of pregnancy (MIM.147480)
- Low phospholipid-associated cholelithiasis (LPAC) (MIM.600803)
- cholestasis, ductopenia, and cirrhosis in adults (#18781607#)
See also
P-glycoproteins
References
A mutation in the canalicular phospholipid transporter gene, ABCB4, is associated with cholestasis, ductopenia, and cirrhosis in adults. Gotthardt D, Runz H, Keitel V, Fischer C, Flechtenmacher C, Wirtenberger M, Weiss KH, Imparato S, Braun A, Hemminki K, Stremmel W, Rüschendorf F, Stiehl A, Kubitz R, Burwinkel B, Schirmacher P, Knisely AS, Zschocke J, Sauer P. Hepatology. 2008 Oct;48(4):1157-66. PMID: #18781607#
Rosmorduc O, Poupon R. Low phospholipid associated cholelithiasis: association with mutation in the MDR3/ABCB4 gene. Orphanet J Rare Dis. 2007 Jun 11;2(1):29. PMID: #17562004#