ABCB4
Sign in to saveAlso 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
- 87,400,393–87,480,435 (−)
- 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].
Gene Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
ATP binding cassette subfamily B member 4
- Symbol
- ABCB4
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 7:87,400,393-87,480,435
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
Show 9 more facts
- HomoloGene ID
- 136368
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/5244
- genomic end
- 87109751
- genomic start
- 87401696
- chromosome
- human chromosome 7
- cytogenetic location
- 7q21.12
- expressed in
- spleen
- genetic association
- gallstone disease
via Wikidata · CC0
~2 min read
Encyclopedic overview
4 sectionsContents
- Cancer
- References
- Further reading
- External links
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.
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.
Excerpted from Wikipedia’s “ABCB4” article, available under the CC BY-SA 4.0 licence.