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Reviewed May 2013
What is the official name of the ABCG8 gene?
The official name of this gene is “ATP binding cassette subfamily G member 8.”
ABCG8 is the gene's official symbol. The ABCG8 gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.
What is the normal function of the ABCG8 gene?
The ABCG8 gene provides instructions for making sterolin-2, which makes up half of a protein called sterolin. The other half of the sterolin protein, sterolin-1, is produced from a gene called ABCG5. Sterolin is involved in eliminating plant sterols, which are fatty components of plant-based foods that cannot be used by human cells.
Sterolin is a transporter protein, which is a type of protein that moves substances across cell membranes. It is found mostly in cells of the intestines and liver and transports plant sterols. After plant sterols are absorbed from food into intestinal cells, the sterolin transporters in these cells pump them back into the intestinal tract. Sterolin transporters in liver cells pump the plant sterols into a fluid called bile that is released into the intestine. From the intestine, the plant sterols are eliminated with the feces. This process removes most of the dietary plant sterols, and allows only about 5 percent of these substances to get into the bloodstream. Sterolin also helps regulate levels of cholesterol, another fatty substance found in animal products, in a similar fashion; normally about 50 percent of cholesterol in the diet is absorbed by the body.
Does the ABCG8 gene share characteristics with other genes?
The ABCG8 gene belongs to a family of genes called ABC (ATP-binding cassette transporters).
A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? in the Handbook.
How are changes in the ABCG8 gene related to health conditions?
Where is the ABCG8 gene located?
Cytogenetic Location: 2p21
Molecular Location on chromosome 2: base pairs 43,828,954 to 43,880,189
The ABCG8 gene is located on the short (p) arm of chromosome 2 at position 21.
More precisely, the ABCG8 gene is located from base pair 43,828,954 to base pair 43,880,189 on chromosome 2.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about ABCG8?
You and your healthcare professional may find the following resources about ABCG8 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
What other names do people use for the ABCG8 gene or gene products?
See How are genetic conditions and genes named? in the Handbook.
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding ABCG8?
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (13 links)
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.