The ATP-binding cassette 4 (ABCB4) gene encodes multidrug resistance protein 3.[5][6][7]ABCB4 is associated with progressive familial intrahepatic cholestasis type 3 and intrahepatic cholestasis of pregnancy.
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 (flippase activity). 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.[7]
^ abcGRCh38: Ensembl release 89: ENSG00000005471 – Ensembl, May 2017
^ abcGRCm38: Ensembl release 89: ENSMUSG00000042476 – Ensembl, May 2017
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^Van der Bliek AM, Baas F, Ten Houte de Lange T, Kooiman PM, Van der Velde-Koerts T, Borst P (Mar 1988). "The human mdr3 gene encodes a novel P-glycoprotein homologue and gives rise to alternatively spliced mRNAs in liver". The EMBO Journal. 6 (11): 3325–31. doi:10.1002/j.1460-2075.1987.tb02653.x. PMC 553787. PMID 2892668.
^Rosmorduc O, Hermelin B, Poupon R (Apr 2001). "MDR3 gene defect in adults with symptomatic intrahepatic and gallbladder cholesterol cholelithiasis". Gastroenterology. 120 (6): 1459–67. doi:10.1053/gast.2001.23947. PMID 11313316.
^ ab"Entrez Gene: ABCB4 ATP-binding cassette, sub-family B (MDR/TAP), member 4".
The ATP-binding cassette 4 (ABCB4) gene encodes multidrug resistance protein 3. ABCB4 is associated with progressive familial intrahepatic cholestasis...
the disease. Genetic mutations in the hepatocellular transport protein ABCB4 (MDR3), which controls secretion of phosphatidylcholine into bile, have...
disease in the Shetland Sheepdog found that an insertion mutation of the ABCB4 gene that occurs in the Shetland Sheepdog — as well as other breeds — had...
ABCB11 gene encodes for the bile salt export pump (BSEP) protein, and the ABCB4 gene encodes for the multidrug resistance 3 (MDR3) protein. BSEP and MDR3...
ABCB transporters such as ABCB4 participate in both the export and import of auxin At low intracellular auxin concentrations ABCB4 imports auxin until it...
are also predisposed to developing gallbladder mucoceles as the mutation ABCB4 gene has been associated and these breeds often show signs of lipid metabolism...
ABCB11 deficiency or BSEP deficiency Type 3 (OMIM #602347), also called ABCB4 deficiency or MDR3 deficiency Type 4 (OMIM #615878), from mutation in TJP2...
Multidrug resistance protein 3, a protein that in humans is encoded by the ABCB4 gene and is associated with progressive familial intrahepatic cholestasis...
Chiorean E, Krawczyk M, Grünhage F, Lammert F (June 2009). "Common variants of ABCB4 and ABCB11 and plasma lipid levels: a study in sib pairs with gallstones...
the gut (oral availability of drugs) (24) (25). Proof that the Mdr2/MDR3 (ABCB4) P-glycoprotein is a phosphatidylcholine translocator, essential for bile...
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