Gene: ABCB4

Alternate names for this Gene: ABC21|GBD1|ICP3|MDR2|MDR2/3|MDR3|PFIC-3|PGY3

Gene 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.

Gene is located in Chromosome: 7

Location in Chromosome : 7q21.12

Description of this Gene: ATP binding cassette subfamily B member 4

Type of Gene: protein-coding

rs2109505 in ABCB4 gene and Alanine aminotransferase measurement PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs4148808 in ABCB4 gene and Biliary calculi PMID 30504769 2018 Genome-wide association meta-analysis yields 20 loci associated with gallstone disease.

rs121918441 in ABCB4 gene and CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3 PMID 15077010 2004 Sequence analysis of bile salt export pump (ABCB11) and multidrug resistance p-glycoprotein 3 (ABCB4, MDR3) in patients with intrahepatic cholestasis of pregnancy.

PMID 12746424 2003 ABCB4 gene sequence variation in women with intrahepatic cholestasis of pregnancy.

PMID 10767346 2000 Heterozygous MDR3 missense mutation associated with intrahepatic cholestasis of pregnancy: evidence for a defect in protein trafficking.

rs121918440 in ABCB4 gene and Cholecystitis PMID 28776642 2018 Diagnosis of monogenic liver diseases in childhood by next-generation sequencing.

PMID 9419367 1998 Mutations in the MDR3 gene cause progressive familial intrahepatic cholestasis.

PMID 26153658 2016 Heterozygous ABCB4 mutations in children with cholestatic liver disease.

PMID 24806754 2014 Molecular mechanistic explanation for the spectrum of cholestatic disease caused by the S320F variant of ABCB4.

PMID 17726488 2007 Molecular characterization and structural implications of 25 new ABCB4 mutations in progressive familial intrahepatic cholestasis type 3 (PFIC3).

PMID 21119540 2011 Clinical features and genotype-phenotype correlations in children with progressive familial intrahepatic cholestasis type 3 related to ABCB4 mutations.

PMID 26699824 2016 Elevation of gamma-glutamyl transferase in adult: Should we think about progressive familiar intrahepatic cholestasis?

PMID 15077010 2004 Sequence analysis of bile salt export pump (ABCB11) and multidrug resistance p-glycoprotein 3 (ABCB4, MDR3) in patients with intrahepatic cholestasis of pregnancy.

PMID 16890614 2006 Combined mutations of canalicular transporter proteins cause severe intrahepatic cholestasis of pregnancy.

PMID 12891548 2003 ABCB4 gene mutation-associated cholelithiasis in adults.

PMID 24381502 2013 Functional Characterization of ABCB4 Mutations Found in Low Phospholipid-Associated Cholelithiasis (LPAC).

PMID 11313316 2001 MDR3 gene defect in adults with symptomatic intrahepatic and gallbladder cholesterol cholelithiasis.

rs121918443 in ABCB4 gene and Cholestasis, progressive familial intrahepatic 3 PMID 24594635 2015 Functional analysis of ABCB4 mutations relates clinical outcomes of progressive familial intrahepatic cholestasis type 3 to the degree of MDR3 floppase activity.

PMID 24045840 2014 Two ABCB4 point mutations of strategic NBD-motifs do not prevent protein targeting to the plasma membrane but promote MDR3 dysfunction.

PMID 17726488 2007 Molecular characterization and structural implications of 25 new ABCB4 mutations in progressive familial intrahepatic cholestasis type 3 (PFIC3).

PMID 24806754 2014 Molecular mechanistic explanation for the spectrum of cholestatic disease caused by the S320F variant of ABCB4.

PMID 11313315 2001 The wide spectrum of multidrug resistance 3 deficiency: from neonatal cholestasis to cirrhosis of adulthood.

PMID 28012258 2017 Functional defect of variants in the adenosine triphosphate-binding sites of ABCB4 and their rescue by the cystic fibrosis transmembrane conductance regulator potentiator, ivacaftor (VX-770).

PMID 12671900 2003 A multidrug resistance 3 gene mutation causing cholelithiasis, cholestasis of pregnancy, and adulthood biliary cirrhosis.

PMID 21119540 2011 Clinical features and genotype-phenotype correlations in children with progressive familial intrahepatic cholestasis type 3 related to ABCB4 mutations.

PMID 9419367 1998 Mutations in the MDR3 gene cause progressive familial intrahepatic cholestasis.

rs1014283 in ABCB4 gene and Low density lipoprotein cholesterol measurement PMID 30275531 2018 Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.

rs121918442 in ABCB4 gene and Low phospholipid-associated cholelithiasis PMID 22331132 2012 Aspects of liver pathology in adult patients with MDR3/ABCB4 gene mutations.

PMID 24723470 2014 Phosphorylation of ABCB4 impacts its function: insights from disease-causing mutations.

PMID 11313316 2001 MDR3 gene defect in adults with symptomatic intrahepatic and gallbladder cholesterol cholelithiasis.

PMID 12891548 2003 ABCB4 gene mutation-associated cholelithiasis in adults.

PMID 23533021 2013 Genotype-phenotype relationships in the low-phospholipid-associated cholelithiasis syndrome: a study of 156 consecutive patients.

PMID 28012258 2017 Functional defect of variants in the adenosine triphosphate-binding sites of ABCB4 and their rescue by the cystic fibrosis transmembrane conductance regulator potentiator, ivacaftor (VX-770).

PMID 24723470 2014 Two missense variations, T34M and R47G, were identified in patients with low-phospholipid-associated cholelithiasis or intrahepatic cholestasis of pregnancy.

rs2109505 in ABCB4 gene and Serum Alanine Aminotransferase Measurement PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs1014283 in ABCB4 gene and Serum total cholesterol measurement PMID 30275531 2018 Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.

rs1558375 in ABCB4 gene and gallbladder neoplasm PMID 28274756 2017 Common genetic variation and risk of gallbladder cancer in India: a case-control genome-wide association study.