ATP-Binding Cassette, Subfamily B, Member 4

Alternative Names

  • ABCB4
  • P-Glycoprotein 3
  • PGY3
  • Multidrug Resistance 3
  • MDR3
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OMIM Number

171060

NCBI Gene ID

5244

Uniprot ID

P21439

Length

81,448 bases

No. of Exons

31

No. of isoforms

3

Protein Name

Phosphatidylcholine translocator ABCB4

Molecular Mass

141523 Da

Amino Acid Count

1286

Genomic Location

chr7:87,398,988-87,480,435

Gene Map Locus
7q21.12

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000140.5:c.863T>CLebanonchr18:57554894Likely PathogenicProtoporphyria, Erythropoietic, 1NG_008175.1:g.36844T>C; NM_000140.5:c.863T>C; NP_000131.2:p.Met288Thr
NM_000443.4:c.1768C>TLebanonchr7:87431529Likely PathogenicCholestasis, Progressive Familial Intrahepatic, 3NG_007118.2:g.53904C>T; NM_000443.4:c.1768C>T; NP_000434.1:p.Arg590Ter1293893301
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