Summary of ABCG8
The ABCG8 gene encodes ATP binding cassette subfamily G member 8, which is part of a protein called sterolin [R, R].
Sterolin helps remove sterols, a type of fatty molecule, from the body. Cholesterol is among the substances eliminated by sterolin [R].
Mutations in this gene can cause sitosterolemia, a buildup of plant sterols in the blood vessels, skin, and other tissues. People with these mutations are prone to atherosclerosis [R].
Variants in ABCG8 have also been linked to [R, R, R, R]:
- Type 2 diabetes
- Diabetes complications
- Gallstone disease
- Heart disease
Protein names
Recommended name:
ATP-binding cassette sub-family G member 8Alternative name(s):
Sterolin-2- RS11887534 (ABCG8) ??
- RS41360247 (ABCG8) ??
- RS4148211 (ABCG8) ??
- RS4148217 (ABCG8) ??
- RS4245791 (ABCG8) ??
- RS4299376 (ABCG8) ??
- RS4953023 (ABCG8) ??
- RS6544713 (ABCG8) ??
- RS6544718 (ABCG8) ??
- RS6756629 (ABCG8) ??
- RS72875462 (ABCG8) ??
- RS76866386 (ABCG8) ??
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Top Gene-Substance Interactions
ABCG8 Interacts with These Diseases
| Disease | Score |
Substances That Increase ABCG8
| Substances | Interaction | Organism | Category |
Substances That Decrease ABCG8
| Substances | Interaction | Organism | Category |
Conditions with Increased Gene Activity
| Condition | Change (log2fold) | Comparison | Species | Experimental variables | Experiment name |
|---|
Conditions with Decreased Gene Activity
| Condition | Change (log2fold) | Comparison | Species | Experimental variables | Experiment name |
|---|
Technical
The following transcription factors affect gene expression:
Tissue specificity:
Strongly expressed in the liver, lower levels in the small intestine and colon. Detectable in a wide variety of human tissues.
Gene Pathways:
Caution:
Seems to have a defective ATP-binding region.
Molecular Function:
- Atp Binding
- Cholesterol Transporter Activity
- Atpase Activity, Coupled To Transmembrane Movement Of Substances
- Protein Heterodimerization Activity
Biological Processes:
- Response To Nutrient
- Excretion
- Negative Regulation Of Intestinal Phytosterol Absorption
- Phospholipid Transport
- Sterol Transport
- Intestinal Cholesterol Absorption
- Cholesterol Efflux
- Cholesterol Homeostasis
- Negative Regulation Of Intestinal Cholesterol Absorption
- Transmembrane Transport