Gene Symbol | ABCB4 |
Entrez Gene ID | 5244 |
Full Name | ATP binding cassette subfamily B member 4 |
Synonyms | ABC21,GBD1,ICP3,MDR2,MDR2/3,MDR3,PFIC-3,PGY3 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Cholestasis, progressive familial intrahepatic 3, 602347 (3); Cholestasis, intrahepatic, of pregnancy, 3, 614972 (3); Gallbladder disease 1, 600803 (3) |