ABCA1 Chromosome 9
ATP binding cassette subfamily A member 1
Upload your DNA to see your personal genotypes for variants in ABCA1.
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 intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. With cholesterol as its substrate, this protein functions as a cholesteral efflux pump in the cellular lipid removal pathway. Mutations in both alleles of this gene cause Tangier disease and familial high-density lipoprotein (HDL) deficiency. [provided by RefSeq, Sep 2019]
Gene Info
Gene Group
"ATP binding cassette subfamily A|ATPase phospholipid transporting"
Locus Type
gene with protein product
Location
9q31.1
Ensembl
ENSG00000165029
Associated Conditions (22)
Tangier disease
Hypoalphalipoproteinemia
primary
1
Hypertrophic cardiomyopathy
Cardiovascular phenotype
ABCA1-related disorder
Thymoma
Colon adenocarcinoma
Hypercholesterolemia
familial
Gastric cancer
Neurofibromatosis
type 1
Early-onset coronary artery disease
Colorectal cancer
Thyroid cancer
nonmedullary
variant
ABCA1-related dyslipidemia
+2 more conditions
Key Variants
RS113077827
Conflicting classifications of pathogenicity
Tangier disease, Hypoalphalipoproteinemia, primary
Health Risk
RS116034780
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy
Health Risk
RS1250688041
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
RS13306068
Conflicting classifications of pathogenicity
Hypoalphalipoproteinemia, primary, 1
Health Risk
RS13306073
Conflicting classifications of pathogenicity
Tangier disease, Hypoalphalipoproteinemia, primary
Health Risk
RS13306077
Conflicting classifications of pathogenicity
Hypoalphalipoproteinemia, primary, 1
Health Risk
RS13306080
Conflicting classifications of pathogenicity
Hypoalphalipoproteinemia, primary, 1
Health Risk
RS138056193
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
RS138487227
Conflicting classifications of pathogenicity
Tangier disease, Hypoalphalipoproteinemia, primary
Health Risk
RS138992952
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
RS139457469
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Tangier disease, Hypoalphalipoproteinemia
Health Risk
RS140130551
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
All Variants (184)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS754040394 | Health Risk | Conflicting classifications of pathogenicity | Tangier disease, Hypoalphalipoproteinemia, primary |
| RS755256833 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS758322157 | Health Risk | Conflicting classifications of pathogenicity | Hypoalphalipoproteinemia, primary, 1 |
| RS760346286 | Health Risk | Conflicting classifications of pathogenicity | Hypoalphalipoproteinemia, primary, 1 |
| RS760507032 | Health Risk | Conflicting classifications of pathogenicity | Hypoalphalipoproteinemia, primary, 1 |
| RS762540648 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS762770081 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Hypoalphalipoproteinemia, primary |
| RS763005471 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS763149283 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS76321849 | Health Risk | Conflicting classifications of pathogenicity | Hypoalphalipoproteinemia, primary, 1 |
| RS763744498 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS767710036 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS768348083 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS76881554 | Health Risk | Conflicting classifications of pathogenicity | Hypoalphalipoproteinemia, primary, 1 |
| RS769533549 | Health Risk | Conflicting classifications of pathogenicity | Hypoalphalipoproteinemia, primary, 1 |
| RS771661583 | Health Risk | Conflicting classifications of pathogenicity | Tangier disease, Hypoalphalipoproteinemia, primary |
| RS774046285 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS774118431 | Health Risk | Conflicting classifications of pathogenicity | Hypoalphalipoproteinemia, primary, 1 |
| RS775987152 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS776042207 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS776102861 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS776604878 | Health Risk | Conflicting classifications of pathogenicity | Tangier disease, Hypoalphalipoproteinemia, primary |
| RS778130619 | Health Risk | Conflicting classifications of pathogenicity | Hypoalphalipoproteinemia, primary, 1 |
| RS779634773 | Health Risk | Conflicting classifications of pathogenicity | Tangier disease, Hypoalphalipoproteinemia, primary |
| RS779786833 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS780534377 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS780611537 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS78086474 | Health Risk | Conflicting classifications of pathogenicity | Tangier disease, Hypoalphalipoproteinemia, primary |
| RS868826271 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS886063313 | Health Risk | Conflicting classifications of pathogenicity | Hypoalphalipoproteinemia, primary, 1 |
| RS9282543 | Health Risk | Conflicting classifications of pathogenicity | Hypoalphalipoproteinemia, primary, 1 |
| RS9282547 | Health Risk | Conflicting classifications of pathogenicity | Hypoalphalipoproteinemia, primary, 1 |
| RS1371879163 | Health Risk | Likely pathogenic | Neurofibromatosis, type 1, Neurofibromatosis |
| RS137854494 | Health Risk | Likely pathogenic | Tangier disease, ABCA1-related disorder, Tangier disease |
| RS137854497 | Health Risk | Likely pathogenic | Tangier disease, Tangier disease |
| RS137854501 | Health Risk | Likely pathogenic | Tangier disease, Tangier disease |
| RS1438323919 | Health Risk | Likely pathogenic | — |
| RS1440948694 | Health Risk | Likely pathogenic | Hypoalphalipoproteinemia, primary, 1 |
| RS1450125094 | Health Risk | Likely pathogenic | Early-onset coronary artery disease, Early-onset coronary artery disease |
| RS1830613298 | Health Risk | Likely pathogenic | Hypoalphalipoproteinemia, primary, 1 |
| RS1838970198 | Health Risk | Likely pathogenic | — |
| RS2538029549 | Health Risk | Likely pathogenic | — |
| RS2538118927 | Health Risk | Likely pathogenic | — |
| RS2538140303 | Health Risk | Likely pathogenic | Tangier disease, Tangier disease |
| RS2538176853 | Health Risk | Likely pathogenic | Hypoalphalipoproteinemia, primary, 1 |
| RS28937314 | Health Risk | Likely pathogenic | Tangier disease, Tangier disease, Tangier disease |
| RS374404992 | Health Risk | Likely pathogenic | Hypoalphalipoproteinemia, primary, 1 |
| RS375247413 | Health Risk | Likely pathogenic | Cardiovascular phenotype, Colorectal cancer, Thyroid cancer |
| RS780321144 | Health Risk | Likely pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS1030888252 | Health Risk | Pathogenic | — |