ABCB4 ATP binding cassette subfamily B member 4
Gene ID: 5244, updated on 10-Oct-2024Gene type: protein coding
Also known as: GBD1; ICP3; MDR2; MDR3; PGY3; ABC21; MDR2/3; PFIC-3
- See all available tests in GTR for this gene
- Go to complete Gene record for ABCB4
- Go to Variation Viewer for ABCB4 variants
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. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Cholestasis, intrahepatic, of pregnancy, 3 | not available |
| Genome-wide association study identifies new susceptibility loci for epithelial ovarian cancer in Han Chinese women. GeneReviews: Not available | |
| Low phospholipid associated cholelithiasis | not available |
| Progressive familial intrahepatic cholestasis type 3 | not available |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2024-04-16) ClinGen Genome Curation PageHaploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2024-04-16) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- 7q21.12
- Sequence:
- Chromosome: 7; NC_000007.14 (87365896..87476027, complement)
- Total number of exons:
- 34
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ABCB4 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- CCHMC - Human Genetics Mutation Database
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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