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GeneE
50 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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ABCA1
ATP binding cassette subfamily A member 1
Chromosome 9 Β· 9q31.1
NCBI Gene: 19Ensembl: ENSG00000165029.17HGNC: HGNC:29UniProt: B2RUU2
851PubMed Papers
22Diseases
1Drugs
76Pathogenic Variants
FUNCTIONAL ROLE
Transporter
RESEARCH IMPACT
Highly StudiedVariant-Rich
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
phospholipid transfer activityprotein bindingATP bindingsmall GTPase bindingTangier diseasehypoalphalipoproteinemia, primary, 1coronary artery diseaseglaucoma
✦AI Summary

ABCA1 is an ATP-binding cassette transporter that catalyzes ATP-dependent translocation of phospholipids and cholesterol across cellular membranes 12. It preferentially transports phosphatidylcholine and mediates cholesterol efflux to lipid-poor apolipoproteins, facilitating nascent HDL particle formation through reverse cholesterol transport 31. Mechanistically, ABCA1 extracts lipids from the plasma membrane and extracellular domain and translocates them through a hydrophobic tunnel 2. ABCA1 expression is tightly regulated, including post-translational stabilization via K63-linked ubiquitination to counter lysosomal degradation 4. Loss-of-function ABCA1 mutations cause Tangier disease, characterized by severe HDL deficiency, macrophage cholesterol accumulation, and premature atherosclerosis 5. ABCA1 deficiency in glomerular endothelial cells exacerbates diabetic kidney disease through cholesterol accumulation, endoplasmic reticulum stress, and inflammation 6. Emerging evidence links ABCA1 to additional pathologies: genetic polymorphisms associate with hypertension risk 7, and upregulation promotes temozolomide chemoresistance in glioma while facilitating M2 macrophage infiltration 8. ABCA1 represents a therapeutic target, with PPAR and LXR agonists capable of enhancing its expression and stabilization to promote cholesterol efflux and reduce atherosclerotic progression 9.

Sources cited
1
ABCA1 catalyzes ATP-coupled phospholipid translocation and preferentially transports phosphatidylcholine
PMID: 24097981
2
ABCA1 mechanism involves translocation through extracellular hydrophobic tunnel; involved in HDL formation
PMID: 35974019
3
ABCA1 participates in phospholipid and cholesterol transfer to apolipoproteins for nascent HDL formation
PMID: 14754908
4
Listerin stabilizes ABCA1 via K63-linked polyubiquitination, countering ESCRT-mediated lysosomal degradation; essential for macrophage cholesterol efflux
PMID: 40526435
5
ABCA1 mutations cause Tangier disease with HDL deficiency, macrophage sterol deposition, and atherosclerosis
PMID: 11111099
6
ABCA1 deficiency in glomerular endothelium exacerbates diabetic kidney disease through cholesterol accumulation and endoplasmic reticulum stress
PMID: 36521550
7
ABCA1 role in atherosclerosis; PPAR and LXR agonists enhance ABCA1 expression as therapeutic approach
PMID: 16013195
8
ABCA1 gene polymorphisms associated with hypertension risk in Chinese Han population
PMID: 35669754
9
ABCA1 upregulation promotes temozolomide chemoresistance in glioma and facilitates M2 macrophage immune infiltration
PMID: 37749600
Disease Associationsβ“˜22
Tangier diseaseOpen Targets
0.84Strong
hypoalphalipoproteinemia, primary, 1Open Targets
0.77Strong
coronary artery diseaseOpen Targets
0.57Moderate
glaucomaOpen Targets
0.53Moderate
open-angle glaucomaOpen Targets
0.53Moderate
metabolic diseaseOpen Targets
0.51Moderate
metabolic syndromeOpen Targets
0.51Moderate
HypercholesterolemiaOpen Targets
0.50Moderate
Abnormality of the cardiovascular systemOpen Targets
0.49Moderate
alcohol drinkingOpen Targets
0.46Moderate
hyperlipidemiaOpen Targets
0.46Moderate
Joubert syndrome and related disordersOpen Targets
0.45Moderate
apolipoprotein A-I deficiencyOpen Targets
0.44Moderate
Alzheimer diseaseOpen Targets
0.44Moderate
eye diseaseOpen Targets
0.43Moderate
coronary atherosclerosisOpen Targets
0.42Moderate
goutOpen Targets
0.41Moderate
type 2 diabetes mellitusOpen Targets
0.39Weak
cardiovascular diseaseOpen Targets
0.38Weak
coronary artery calcificationOpen Targets
0.35Weak
Hypoalphalipoproteinemia, primary, 1UniProt
Tangier diseaseUniProt
Pathogenic Variants76
NM_005502.4(ABCA1):c.5398A>C (p.Asn1800His)Pathogenic
ABCA1-related disorder|not provided|Hypoalphalipoproteinemia, primary, 1|Familial hypoalphalipoproteinemia|Cardiovascular phenotype|Decreased HDL cholesterol concentration|Tangier disease
β˜…β˜…β˜†β˜†2026β†’ Residue 1800
NM_005502.4(ABCA1):c.1759C>T (p.Arg587Trp)Pathogenic
ABCA1-related disorder|not provided|Autosomal dominant and autosomal recessive ABCA1-related disorders
β˜…β˜…β˜†β˜†2025β†’ Residue 587
NM_005502.4(ABCA1):c.4274+1G>ALikely pathogenic
not provided|Neurofibromatosis, type 1
β˜…β˜…β˜†β˜†2025
NM_005502.4(ABCA1):c.4175+1G>TLikely pathogenic
not provided|Cardiovascular phenotype|Colorectal cancer|Thyroid cancer, nonmedullary, 1
β˜…β˜…β˜†β˜†2025
NM_005502.4(ABCA1):c.2819C>T (p.Thr940Met)Pathogenic
not provided|Cardiovascular phenotype
β˜…β˜…β˜†β˜†2025β†’ Residue 940
NM_005502.4(ABCA1):c.6241C>T (p.Arg2081Trp)Likely pathogenic
Tangier disease|not provided
β˜…β˜†β˜†β˜†2026β†’ Residue 2081
NM_005502.4(ABCA1):c.4517C>T (p.Ser1506Leu)Likely pathogenic
Tangier disease|not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 1506
NM_005502.4(ABCA1):c.2804A>G (p.Asn935Ser)Pathogenic
Tangier disease|not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 935
NM_005502.4(ABCA1):c.1804C>T (p.Gln602Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 602
NM_005502.4(ABCA1):c.5449C>T (p.Arg1817Ter)Pathogenic
Tangier disease
β˜…β˜†β˜†β˜†2025β†’ Residue 1817
NM_005502.4(ABCA1):c.3112C>T (p.Gln1038Ter)Pathogenic
Tangier disease
β˜…β˜†β˜†β˜†2025β†’ Residue 1038
NM_005502.4(ABCA1):c.843dup (p.Arg282fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 282
NM_005502.4(ABCA1):c.847C>T (p.Gln283Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 283
NM_005502.4(ABCA1):c.1758dup (p.Arg587fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 587
NM_005502.4(ABCA1):c.4429T>C (p.Cys1477Arg)Likely pathogenic
Tangier disease|ABCA1-related disorder|not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 1477
NM_005502.4(ABCA1):c.6430C>T (p.Arg2144Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 2144
NM_005502.4(ABCA1):c.1265del (p.Lys422fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 422
NM_005502.4(ABCA1):c.3808C>T (p.Arg1270Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 1270
NM_005502.4(ABCA1):c.6242G>A (p.Arg2081Gln)Likely pathogenic
Cardiovascular phenotype
β˜…β˜†β˜†β˜†2025β†’ Residue 2081
NM_005502.4(ABCA1):c.6007G>A (p.Gly2003Arg)Likely pathogenic
Cardiovascular phenotype
β˜…β˜†β˜†β˜†2025β†’ Residue 2003
View on ClinVar β†—
Drug Targets1
PROBUCOLApproved
ATP-binding cassette sub-family A member 1 inhibitor
cardiovascular disease
Related Genes
RXRAProtein interaction100%HMGCS1Protein interaction100%UTRNProtein interaction99%APOBProtein interaction99%LCATProtein interaction99%NR1H4Protein interaction99%
Tissue Expression6 tissues
Liver
100%
Bone Marrow
61%
Lung
48%
Ovary
27%
Heart
19%
Brain
10%
Gene Interaction Network
Click a node to explore
ABCA1RXRAHMGCS1UTRNAPOBLCATNR1H4
PROTEIN STRUCTURE
Preparing viewer…
PDB7TBW Β· 3.10 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.56Moderately Constrained
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.49 [0.42–0.56]
RankingsWhere ABCA1 stands among ~20K protein-coding genes
  • #216of 20,598
    Most Researched851 Β· top 5%
  • #720of 1,025
    FDA-Approved Drug Targets1
  • #966of 5,498
    Most Pathogenic Variants76 Β· top quartile
  • #3,662of 17,882
    Most Constrained (LOEUF)0.56 Β· top quartile
Genes detectedABCA1
Sources retrieved50 papers
Response timeβ€”
πŸ“„ Sources
50β–Ό
1
E3 ubiquitin ligase Listerin regulates macrophage cholesterol efflux and atherosclerosis by targeting ABCA1.
PMID: 40526435
J Clin Invest Β· 2025
1.00
2
ABCA1 deficiency-mediated glomerular cholesterol accumulation exacerbates glomerular endothelial injury and dysfunction in diabetic kidney disease.
PMID: 36521550
Metabolism Β· 2023
0.90
3
Correlation Between ABCA1 Gene Polymorphism and aopA-I and HDL-C in Abdominal Aortic Aneurysm.
PMID: 26774504
Med Sci Monit Β· 2016
0.86
4
Association of
PMID: 35400990
Mol Vis Β· 2022
0.84
5
Adipocyte Membrane Cholesterol Regulates Obesity.
PMID: 29563111
Arterioscler Thromb Vasc Biol Β· 2018
0.80