ABCB4 |
Gene Facts External Data Attribution
- HGNC Symbol
- ABCB4 (HGNC:45) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- ATP binding cassette subfamily B member 4
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- PGY3, MDR3
- Alias symbols
- MDR2, PFIC-3, GBD1
- %HI
- 32.55(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 0.51(Read more about gnomAD LOEUF score)
- Cytoband
- 7q21.12
- Genomic Coordinates
-
GRCh37/hg19: chr7:87031012-87104996 NCBI Ensembl UCSC GRCh38/hg38: chr7:87365896-87476027 NCBI Ensembl UCSC - MANE Select Transcript
- NM_000443.4 ENST00000649586.2 (Read more about MANE Select)
- Function
- [Isoform 1]: Energy-dependent phospholipid efflux translocator that acts as a positive regulator of biliary lipid secretion. Functions as a floppase that translocates specifically phosphatidylcholine (PC) from the inner to the outer leaflet of the canalicular membrane bilayer into the canaliculi of hepatocytes. Translocation of PC makes the biliary phospholipids available for extraction into the canaliculi lumen by bile salt mixed micelles and therefore protects the biliary tree from the deterge... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-14023
Curation Status:
Under Primary Review
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Under Primary Review
Triplosensitivity:
Under Primary Review
Last Evaluated:
Under Primary Review
Haploinsufficiency (HI) Score Details
Review not yet complete.
Triplosensitivity (TS) Score Details
Review not yet complete.
Genomic View
Select assembly:
(NC_000007.13)
(NC_000007.14)