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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ABCA6
ATP binding cassette subfamily A member 6
Chromosome 17 · 17q24.2-q24.3
NCBI Gene: 23460Ensembl: ENSG00000154262.14HGNC: HGNC:36UniProt: Q8N139
24PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
Golgi membranenucleoplasmplasma membranelipid carrier activityHypercholesterolemiametabolic diseasegouthyperlipidemia
✦AI Summary

ABCA6 is an ATP-binding cassette transporter localized primarily to the Golgi apparatus and basolateral hepatocyte surfaces 1, functioning as an intracellular lipid transporter responsive to cholesterol levels 1. Its expression is regulated by FoxO transcription factors 1 and suppressed by insulin-like growth factor-1 1. ABCA6 plays a critical role in chondrocyte homeostasis by regulating intracellular cholesterol efflux; ABCA6 deficiency impairs chondrogenesis and accelerates cellular senescence through cholesterol accumulation, contributing to osteoarthritis progression 2. Loss-of-function ABCA6 mutations cause familial patellar dysplasia and subsequent joint degeneration 2, with ABCA6 identified as a key biomarker in fibrocartilage chondrocytes associated with osteoarthritis pathogenesis 3. A common missense variant (rs77542162) associates with elevated LDL and total cholesterol levels in Dutch populations 4, though functional studies in rodent models show ABCA6 does not regulate lipoprotein metabolism 5. Additionally, ABCA6 variants (rs7212506) correlate with rivaroxaban-related bleeding in aged patients, suggesting roles in drug transport and metabolism 67. Lower ABCA6 expression associates with improved gastric adenocarcinoma prognosis 8.

Sources cited
1
ABCA6 mutations cause familial patellar dysplasia; ABCA6 deficiency impairs chondrogenesis and activates cellular senescence via inhibiting cholesterol efflux
PMID: 39823538
2
ABCA6 identified as key biomarker in fibrocartilage chondrocytes for osteoarthritis; involved in cholesterol homeostasis within chondrocytes
PMID: 39640258
3
ABCA6 expression is FoxO-dependent; localized to Golgi apparatus; responsive to cholesterol loading and HMG-CoA reductase inhibitors
PMID: 24028821
4
ABCA6 variant rs77542162 is associated with elevated LDL and total cholesterol levels in Dutch populations
PMID: 25751400
5
Abca6 is expressed on basolateral hepatocyte surface; rs77542162 disrupts ABCA6 protein stability; Abca6 does not regulate lipoprotein metabolism in rodents
PMID: 34274505
6
ABCA6 rs7212506 variant correlates with rivaroxaban-related bleeding in aged patients through altered drug transport and metabolism
PMID: 34859601
7
ABCA6 rs7212506 is among pharmacogenetic polymorphisms affecting rivaroxaban clinical outcomes
PMID: 40896201
8
Lower ABCA6 expression associates with improved gastric adenocarcinoma prognosis
PMID: 35355155
Disease Associationsⓘ20
HypercholesterolemiaOpen Targets
0.51Moderate
metabolic diseaseOpen Targets
0.50Moderate
goutOpen Targets
0.50Moderate
hyperlipidemiaOpen Targets
0.42Moderate
familial hyperlipidemiaOpen Targets
0.34Weak
Abdominal Aortic AneurysmOpen Targets
0.33Weak
alcohol drinkingOpen Targets
0.32Weak
Disorder of lipid metabolismOpen Targets
0.32Weak
venous thromboembolismOpen Targets
0.32Weak
physical activityOpen Targets
0.32Weak
Abnormality of the skeletal systemOpen Targets
0.28Weak
response to statinOpen Targets
0.27Weak
tooth diseaseOpen Targets
0.27Weak
Hemoglobin E - beta-thalassemiaOpen Targets
0.06Suggestive
hemoglobin E-beta-thalassemia syndromeOpen Targets
0.06Suggestive
hemoglobin D diseaseOpen Targets
0.05Suggestive
Adult-onset autosomal recessive sideroblastic anemiaOpen Targets
0.05Suggestive
IRIDA syndromeOpen Targets
0.04Suggestive
primary familial polycythemia due to EPO receptor mutationOpen Targets
0.04Suggestive
dominant beta-thalassemiaOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ABCA10Shared pathway100%ABCA9Protein interaction87%FOXO1Protein interaction79%FOXO3Protein interaction76%SPNS1Shared pathway50%ESYT3Shared pathway50%
Tissue Expression6 tissues
Liver
100%
Ovary
83%
Heart
37%
Lung
29%
Brain
10%
Bone Marrow
1%
Gene Interaction Network
Click a node to explore
ABCA6ABCA10ABCA9FOXO1FOXO3SPNS1ESYT3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8N139
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.04LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.89 [0.76–1.04]
RankingsWhere ABCA6 stands among ~20K protein-coding genes
  • #13,127of 20,598
    Most Researched24
  • #10,379of 17,882
    Most Constrained (LOEUF)1.04
Genes detectedABCA6
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
ABCA6 Regulates Chondrogenesis and Inhibits Joint Degeneration via Orchestrated Cholesterol Efflux and Cellular Senescence.
PMID: 39823538
Adv Sci (Weinh) · 2025
1.00
2
Identification of key biomarkers related to fibrocartilage chondrocytes for osteoarthritis based on bulk, single-cell transcriptomic data.
PMID: 39640258
Front Immunol · 2024
0.90
3
Non-synonymous alterations in AKR7A3 and ABCA6 correlate with bleeding in aged patients treated with rivaroxaban.
PMID: 34859601
Clin Transl Sci · 2022
0.80
4
Hypercholesterolemia risk associated Abca6 does not regulate lipoprotein metabolism in mice or hamster.
PMID: 34274505
Biochim Biophys Acta Mol Cell Biol Lipids · 2021
0.70
5
Genome of The Netherlands population-specific imputations identify an ABCA6 variant associated with cholesterol levels.
PMID: 25751400
Nat Commun · 2015
0.60