ABCB4

Also known as ABC21, GBD1, ICP3, MDR2, MDR2/3, MDR3, PFIC-3, PGY3

The ATP-binding cassette 4 (ABCB4) gene encodes multidrug resistance protein 3. ABCB4 is associated with progressive familial intrahepatic cholestasis type 3 and intrahepatic cholestasis of pregnancy.

Gene data

ABCB4

Name: ATP binding cassette subfamily B member 4
Type: protein-coding
Position: 87,401,696–87,480,435 (−)
Aliases: ABC21, GBD1, ICP3, MDR2, MDR2/3, MDR3, PFIC-3, PGY3
Ensembl: ENSG00000005471
RefSeq RNA: NM_000443.4, NM_001445616.1, NM_001445617.1, NM_001445618.1, NM_001445619.1
RefSeq protein: NP_000434.1, NP_001432545.1, NP_001432546.1, NP_001432547.1, NP_001432548.1

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].

Pathways

ABC transporters - Homo sapiens (human)Bile secretion - Homo sapiens (human)Metabolism Disease PPARA activates gene expression Transport of small molecules ABC-family protein mediated transport Regulation of lipid metabolism by PPARalpha Metabolism of lipids ABC transporter disorders

via MyGene.info

Wikidata facts

Show 5 more facts

HomoloGene ID: 136368
exact match: identifiers.org/ncbigene/5244
genomic end: 87109751
genomic start: 87401696
cytogenetic location: 7q21.12

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Cancer
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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.