ABCB4 Antibody – Mouse Monoclonal

The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance as well as antigen presentation. This gene encodes a full transporter and member of the p-glycoprotein family of membrane proteins with phosphatidylcholine as its substrate. The function of this protein has not yet been determined; however, it may involve transport of phospholipids from liver hepatocytes into bile. Alternative splicing of this gene results in several products of undetermined function. [provided by RefSeq]

ABCB4: a transporter that mediates ATP-dependent export of organic anions and drugs from the cytoplasm. Hydrolyzes ATP with low efficiency. Human ABCB4 is not capable of conferring drug resistance. Mediates the translocation of phosphatidylcholine across the canalicular membrane of the hepatocyte. Interacts with HAX1. Defects are the cause of gallstones, and progressive familial intrahepatic cholestasis 3, an autosomal recessive liver disorder that progresses to cirrhosis and liver failure before adulthood. Two alternatively spliced human isoforms have been described.

Protein type: EC 3.6.3.44; Hydrolase; Membrane protein, integral; Transporter, ABC family; Membrane protein, multi-pass; Transporter

Chromosomal Location of Human Ortholog: 7q21.1

Cellular Component: intercellular canaliculus; membrane; integral to plasma membrane; plasma membrane; integral to membrane

Molecular Function: ATPase activity, coupled to transmembrane movement of substances; xenobiotic-transporting ATPase activity; ATP binding

Biological Process: response to drug; transport; xenobiotic transport; multidrug transport; lipid metabolic process; cellular lipid metabolic process; transmembrane transport

Disease: Gallbladder Disease 1; Cholestasis, Progressive Familial Intrahepatic, 3; Cholestasis, Intrahepatic, Of Pregnancy 3