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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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ABCG8
ATP binding cassette subfamily G member 8
Chromosome 2 Β· 2p21
NCBI Gene: 64241Ensembl: ENSG00000143921.10HGNC: HGNC:13887UniProt: Q9H221
137PubMed Papers
22Diseases
0Drugs
60Pathogenic Variants
FUNCTIONAL ROLE
Transporter
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
ATP bindingATP hydrolysis activitycholesterol transfer activityprotein bindingsitosterolemiasitosterolemia 1cholelithiasisHypercholesterolemia
✦AI Summary

ABCG8 encodes a subunit of an obligate heterodimer with ABCG5 that mediates ATP-dependent sterol transport across cell membranes 1. This transporter is essential for regulating whole-body sterol homeostasis by limiting intestinal cholesterol absorption and facilitating biliary cholesterol secretion into bile 2. The ABCG5/ABCG8 heterodimer functions as an efflux pump located on apical membranes of enterocytes and hepatocytes, eliminating sterols via the biliary tree and intestinal tract while preventing xenosterol accumulation 3. Loss-of-function mutations in ABCG8 cause sitosterolemia, an autosomal recessive disorder characterized by phytosterol and cholesterol accumulation in blood and tissues, leading to xanthomas, hemolytic anemia, and premature atherosclerosis 45. Common ABCG8 variants account for approximately 25% of genetic risk for gallstone disease 6. Additionally, even heterozygous carriers of ABCG8 variants show altered lipid profiles and increased cardiovascular risk 7. Therapeutic approaches include dietary sterol restriction and ezetimibe, a sterol absorption inhibitor that effectively reduces circulating lipid levels in affected patients 5. The transporter's role in sterol elimination is crucial for atherosclerosis prevention and metabolic disease management.

Sources cited
1
ABCG5 and ABCG8 form obligate heterodimer mediating sterol transport and required for normal sterol homeostasis
PMID: 11099417
2
ABCG5/ABCG8 heterodimer limits intestinal cholesterol absorption and facilitates biliary cholesterol secretion
PMID: 24252657
3
ABCG5/ABCG8 work as obligate dimers to pump sterols out of hepatocytes and enterocytes, regulating whole-body sterol trafficking
PMID: 29728459
4
ABCG8 mutations cause sitosterolemia with phytosterol and cholesterol accumulation, xanthomas, and premature atherosclerosis
PMID: 31254003
5
Sitosterolemia patients with ABCG8 mutations show clinical manifestations including xanthomas, hematological disorders, and atherosclerosis; ezetimibe effectively reduces lipid levels
PMID: 34969652
6
Common ABCG8 mutations account for approximately 25% of genetic risk for gallstone disease
PMID: 27121416
7
Heterozygous carriers of ABCG5/ABCG8 variants are associated with altered lipid profiles and increased cardiovascular risk
PMID: 33395105
Disease Associationsβ“˜22
sitosterolemiaOpen Targets
0.82Strong
sitosterolemia 1Open Targets
0.74Strong
cholelithiasisOpen Targets
0.71Strong
HypercholesterolemiaOpen Targets
0.67Moderate
familial hypercholesterolemiaOpen Targets
0.60Moderate
CholecystitisOpen Targets
0.56Moderate
Abnormality of the cardiovascular systemOpen Targets
0.55Moderate
Disorder of lipid metabolismOpen Targets
0.55Moderate
gallstonesOpen Targets
0.55Moderate
metabolic diseaseOpen Targets
0.53Moderate
response to statinOpen Targets
0.53Moderate
coronary artery diseaseOpen Targets
0.52Moderate
hyperlipidemiaOpen Targets
0.51Moderate
gallbladder diseaseOpen Targets
0.51Moderate
Non-Neoplastic Bile Duct DisorderOpen Targets
0.49Moderate
coronary atherosclerosisOpen Targets
0.49Moderate
biliary tract diseaseOpen Targets
0.48Moderate
familial hyperlipidemiaOpen Targets
0.48Moderate
sitosterolemia 2Open Targets
0.48Moderate
Intrahepatic cholestasis of pregnancyOpen Targets
0.47Moderate
Gallbladder disease 4UniProt
Sitosterolemia 1UniProt
Pathogenic Variants60
NM_022437.3(ABCG8):c.1083G>A (p.Trp361Ter)Pathogenic
Sitosterolemia|not provided|Sitosterolemia 1|ABCG8-related disorder|Cardiovascular phenotype|Sitosterolemia 1;Gallbladder disease 4
β˜…β˜…β˜†β˜†2026β†’ Residue 361
NM_022437.3(ABCG8):c.1720G>A (p.Gly574Arg)Pathogenic
Sitosterolemia|not provided|Sitosterolemia 1|Cardiovascular phenotype|ABCG8-related disorder|Early-onset coronary artery disease
β˜…β˜…β˜†β˜†2026β†’ Residue 574
NM_022437.3(ABCG8):c.965-1G>CPathogenic
not provided|Sitosterolemia 1
β˜…β˜…β˜†β˜†2026
NM_022437.3(ABCG8):c.811C>T (p.Gln271Ter)Pathogenic
not provided|Cardiovascular phenotype
β˜…β˜…β˜†β˜†2026β†’ Residue 271
NM_022437.3(ABCG8):c.64-2A>GPathogenic
not provided|ABCG8-related disorder|Sitosterolemia 1
β˜…β˜…β˜†β˜†2025
NM_022437.3(ABCG8):c.490C>T (p.Arg164Ter)Pathogenic
not provided|Cardiovascular phenotype|Sitosterolemia 1
β˜…β˜…β˜†β˜†2025β†’ Residue 164
NM_022437.3(ABCG8):c.547del (p.Gln183fs)Pathogenic
Sitosterolemia 1|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 183
NM_022437.3(ABCG8):c.320C>G (p.Ser107Ter)Pathogenic
Sitosterolemia 1|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 107
NM_022437.3(ABCG8):c.647_657dup (p.Arg220fs)Pathogenic
not provided|ABCG8-related disorder|Sitosterolemia|Sitosterolemia 1
β˜…β˜…β˜†β˜†2025β†’ Residue 220
NM_022437.3(ABCG8):c.1608G>A (p.Trp536Ter)Pathogenic
not provided|Sitosterolemia 1|ABCG8-related disorder|Sitosterolemia
β˜…β˜…β˜†β˜†2025β†’ Residue 536
NM_022437.3(ABCG8):c.1234C>T (p.Arg412Ter)Pathogenic
Sitosterolemia|Sitosterolemia 1|not provided|Cardiovascular phenotype|ABCG8-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 412
NM_022437.3(ABCG8):c.63_63+53delLikely pathogenic
not provided
β˜…β˜…β˜†β˜†2025
NM_022437.3(ABCG8):c.408del (p.Gln137fs)Pathogenic
not provided|Sitosterolemia 1
β˜…β˜…β˜†β˜†2025β†’ Residue 137
NM_022437.3(ABCG8):c.1752G>A (p.Trp584Ter)Pathogenic
Sitosterolemia 1|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 584
NM_022437.3(ABCG8):c.964+1G>TLikely pathogenic
not provided|Early-onset coronary artery disease
β˜…β˜…β˜†β˜†2024
NM_022437.3(ABCG8):c.1444del (p.Leu482fs)Pathogenic
not provided|Sitosterolemia 1
β˜…β˜…β˜†β˜†2024β†’ Residue 482
NM_022437.3(ABCG8):c.120C>A (p.Tyr40Ter)Pathogenic
not provided|Sitosterolemia 1
β˜…β˜…β˜†β˜†2020β†’ Residue 40
NM_022437.3(ABCG8):c.361C>T (p.Arg121Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2026β†’ Residue 121
NM_022437.3(ABCG8):c.1272dup (p.Cys425fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 425
NM_022437.3(ABCG8):c.1751G>A (p.Trp584Ter)Likely pathogenic
Sitosterolemia 1
β˜…β˜†β˜†β˜†2025β†’ Residue 584
View on ClinVar β†—
Related Genes
SREBF2Protein interaction91%NR1H3Protein interaction90%XPR1Protein interaction90%NR1H2Protein interaction89%NR1H4Protein interaction86%CYP7B1Protein interaction81%
Tissue Expression6 tissues
Liver
100%
Brain
0%
Ovary
0%
Bone Marrow
0%
Lung
0%
Heart
0%
Gene Interaction Network
Click a node to explore
ABCG8SREBF2NR1H3XPR1NR1H2NR1H4CYP7B1
PROTEIN STRUCTURE
Preparing viewer…
PDB7R89 Β· 2.60 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.33LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.11 [0.92–1.33]
RankingsWhere ABCG8 stands among ~20K protein-coding genes
  • #3,359of 20,598
    Most Researched137 Β· top quartile
  • #1,165of 5,498
    Most Pathogenic Variants60 Β· top quartile
  • #13,940of 17,882
    Most Constrained (LOEUF)1.33
Genes detectedABCG8
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Gallstones.
PMID: 27121416
Nat Rev Dis Primers Β· 2016
1.00
2
Sitosterolemia.
PMID: 12481199
Cardiovasc Drug Rev Β· 2002
0.90
3
[Sitosterolemia (phytosterolemia)].
PMID: 31254003
Internist (Berl) Β· 2019
0.80
4
Clinical, genetic profile and therapy evaluation of 55 children and 5 adults with sitosterolemia.
PMID: 34969652
J Clin Lipidol Β· 2022
0.70
5
ABCG5 and ABCG8: more than a defense against xenosterols.
PMID: 29728459
J Lipid Res Β· 2018
0.60