ABCB4 Chromosome 7
ATP binding cassette subfamily B member 4
Upload your DNA to see your personal genotypes for variants in ABCB4.
What This Gene Does
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 Info
Gene Group
"ATP binding cassette subfamily B|ATPase phospholipid transporting"
Locus Type
gene with protein product
Location
7q21.12
Ensembl
ENSG00000005471
Associated Conditions (20)
ABCB4-related disorder
Low phospholipid associated cholelithiasis
Cholestasis
intrahepatic
of pregnancy
3
Progressive familial intrahepatic cholestasis type 3
Inborn genetic diseases
Progressive familial intrahepatic cholestasis type 1
Progressive familial intrahepatic cholestasis
ABCB4-Related Intrahepatic Cholestasis
Uterine corpus endometrial carcinoma
Lung cancer
Familial cancer of breast
Malignant tumor of urinary bladder
See cases
Severe early-childhood-onset retinal dystrophy
Intrahepatic cholestasis
Familial intrahepatic cholestasis type 3
Autosomal recessive ABCB4-related disorders
Key Variants
RS1029350022
Conflicting classifications of pathogenicity
Health Risk
RS1057495486
Conflicting classifications of pathogenicity
Health Risk
RS113445400
Conflicting classifications of pathogenicity
ABCB4-related disorder, ABCB4-related disorder
Health Risk
RS121918442
Conflicting classifications of pathogenicity
Low phospholipid associated cholelithiasis, Low phospholipid associated cholelithiasis
Health Risk
RS1297237099
Conflicting classifications of pathogenicity
ABCB4-related disorder, ABCB4-related disorder
Health Risk
RS139042803
Conflicting classifications of pathogenicity
Cholestasis, intrahepatic, of pregnancy
Health Risk
RS1401956029
Conflicting classifications of pathogenicity
Progressive familial intrahepatic cholestasis type 3, Inborn genetic diseases, Progressive familial intrahepatic cholestasis type 3
Health Risk
RS140387595
Conflicting classifications of pathogenicity
ABCB4-related disorder, ABCB4-related disorder
Health Risk
RS140592811
Conflicting classifications of pathogenicity
Progressive familial intrahepatic cholestasis type 3, Cholestasis, intrahepatic
Health Risk
RS141141860
Conflicting classifications of pathogenicity
Health Risk
RS142794414
Conflicting classifications of pathogenicity
Cholestasis, intrahepatic, of pregnancy
Health Risk
RS143456575
Conflicting classifications of pathogenicity
Progressive familial intrahepatic cholestasis type 1, Progressive familial intrahepatic cholestasis type 1
Health Risk
All Variants (209)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1810212221 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS1812558193 | Health Risk | Pathogenic/Likely pathogenic | Progressive familial intrahepatic cholestasis type 3, Progressive familial intrahepatic cholestasis type 3 |
| RS72552778 | Health Risk | Pathogenic/Likely pathogenic | Low phospholipid associated cholelithiasis, Cholestasis, intrahepatic |
| RS748657435 | Health Risk | Pathogenic/Likely pathogenic | Progressive familial intrahepatic cholestasis type 3, Progressive familial intrahepatic cholestasis, Cholestasis |
| RS754287486 | Health Risk | Pathogenic/Likely pathogenic | Cholestasis, intrahepatic, of pregnancy |
| RS757693457 | Health Risk | Pathogenic/Likely pathogenic | Cholestasis, intrahepatic, of pregnancy |
| RS759202962 | Health Risk | Pathogenic/Likely pathogenic | Progressive familial intrahepatic cholestasis type 3, Low phospholipid associated cholelithiasis, Cholestasis |
| RS794727183 | Health Risk | Pathogenic/Likely pathogenic | ABCB4-related disorder, Low phospholipid associated cholelithiasis, Cholestasis |
| RS886042562 | Health Risk | Pathogenic/Likely pathogenic | Progressive familial intrahepatic cholestasis type 3, Inborn genetic diseases, Progressive familial intrahepatic cholestasis type 3 |