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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ABCA8
ATP binding cassette subfamily A member 8
Chromosome 17 · 17q24.2
NCBI Gene: 10351Ensembl: ENSG00000141338.15HGNC: HGNC:38UniProt: A0A0A0MSU4
31PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
endoplasmic reticulumregulation of cholesterol effluxpositive regulation of cholesterol effluxplasma membranecoronary artery bypasshyperpituitarismcoronary atherosclerosisresponse to statin
✦AI Summary

ABCA8 (ATP binding cassette subfamily A member 8) is a transmembrane transporter that primarily functions in cholesterol efflux and lipid metabolism. The protein catalyzes ATP-dependent efflux of cholesterol and taurocholate 1. ABCA8 interacts with ABCA1 to potentiate cholesterol efflux to lipid-free APOA1, which regulates high-density lipoprotein cholesterol (HDL-C) levels 1. Mechanistically, ABCA8 facilitates cholesterol efflux through direct interaction with ABCA1, enhancing the efficiency of cholesterol removal from cells 1. In the nervous system, ABCA8 plays a crucial role in myelination by interacting with chondroitin sulfate proteoglycan 4 (CSPG4) and modulating oligodendrocyte precursor cell numbers and cerebellar myelination 2. Disease relevance includes associations with hypoalphalipoproteinemia, where damaging ABCA8 variants are found in individuals with low HDL-C levels 3. Additionally, ABCA8 functions as a tumor suppressor in various cancers including hepatocellular carcinoma, gastric cancer, lung adenocarcinoma, and breast cancer, where its downregulation promotes tumor progression and metastasis 4567. Clinically, ABCA8 expression levels serve as prognostic biomarkers in multiple cancer types and may represent therapeutic targets for cholesterol metabolism disorders and cancer treatment.

Sources cited
1
ABCA8 catalyzes ATP-dependent efflux of cholesterol and interacts with ABCA1 to regulate HDL cholesterol levels
PMID: 28882873
2
ABCA8 interacts with CSPG4 and modulates cerebellar myelination and oligodendrocyte precursor cells
PMID: 34752805
3
Damaging ABCA8 variants are associated with hypoalphalipoproteinemia and low HDL-C levels
PMID: 35460704
4
ABCA8 functions as tumor suppressor in hepatocellular carcinoma and is regulated by miR-374b-5p
PMID: 32430024
5
ABCA8 downregulation correlates with poor prognosis in gastric adenocarcinoma
PMID: 32685482
6
ABCA8 acts as tumor suppressor in lung adenocarcinoma through LINC00982/miR-183-5p axis
PMID: 38419344
7
ABCA8 inhibits breast cancer cell proliferation through AMPK/mTOR signaling pathway
PMID: 35191604
Disease Associationsⓘ20
coronary artery bypassOpen Targets
0.35Weak
hyperpituitarismOpen Targets
0.31Weak
coronary atherosclerosisOpen Targets
0.30Weak
response to statinOpen Targets
0.30Weak
metabolic syndromeOpen Targets
0.29Weak
pericarditisOpen Targets
0.25Weak
cholelithiasisOpen Targets
0.14Weak
cervical carcinomaOpen Targets
0.11Weak
vertebral column disorderOpen Targets
0.11Weak
hepatocellular carcinomaOpen Targets
0.08Suggestive
adolescent idiopathic scoliosisOpen Targets
0.06Suggestive
ovarian carcinomaOpen Targets
0.06Suggestive
familial hypercholesterolemiaOpen Targets
0.06Suggestive
hypertriglyceridemia 2Open Targets
0.06Suggestive
pachyonychia congenitaOpen Targets
0.06Suggestive
pancreatic triacylglycerol lipase deficiencyOpen Targets
0.05Suggestive
non-small cell lung carcinomaOpen Targets
0.05Suggestive
thyroid hormone metabolism, abnormal, 2Open Targets
0.05Suggestive
primary familial polycythemia due to EPO receptor mutationOpen Targets
0.05Suggestive
Combined hyperlipidemiaOpen Targets
0.05Suggestive
Pathogenic Variants1
NM_001288985.2(ABCA8):c.2337del (p.Ser779_Met780insTer)Pathogenic
Hypercholesterolemia, familial, 1
☆☆☆☆2022→ Residue 779
View on ClinVar ↗
Related Genes
SLC22A8Protein interaction80%ABCC3Shared pathway25%ABCA5Shared pathway23%ABCA3Shared pathway18%ABCG4Shared pathway18%SOAT2Shared pathway15%
Tissue Expression6 tissues
Ovary
100%
Heart
100%
Liver
63%
Lung
22%
Brain
16%
Bone Marrow
1%
Gene Interaction Network
Click a node to explore
ABCA8SLC22A8ABCC3ABCA5ABCA3ABCG4SOAT2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt O94911
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.09LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.94 [0.82–1.09]
RankingsWhere ABCA8 stands among ~20K protein-coding genes
  • #11,652of 20,598
    Most Researched31
  • #5,251of 5,498
    Most Pathogenic Variants1
  • #11,054of 17,882
    Most Constrained (LOEUF)1.09
Genes detectedABCA8
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Whole-exome sequencing reveals damaging gene variants associated with hypoalphalipoproteinemia.
PMID: 35460704
J Lipid Res · 2022
1.00
2
ABCA8 is regulated by miR-374b-5p and inhibits proliferation and metastasis of hepatocellular carcinoma through the ERK/ZEB1 pathway.
PMID: 32430024
J Exp Clin Cancer Res · 2020
0.90
3
Prognostic Value and Immune Infiltrates of ABCA8 and FABP4 in Stomach Adenocarcinoma.
PMID: 32685482
Biomed Res Int · 2020
0.80
4
Bioinformatics and Experimental Study Revealed LINC00982/ miR-183-5p/ABCA8 Axis Suppresses LUAD Progression.
PMID: 38419344
Curr Cancer Drug Targets · 2024
0.70
5
Loss of ABCA8B decreases myelination by reducing oligodendrocyte precursor cells in mice.
PMID: 34752805
J Lipid Res · 2022
0.60