ABCB4
MIM.171060 7q21.1
Canalicular phospholipid transporter ABCB4
Anomalies:
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)
See also
References
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