ABCG5
ABCG5 is a gene that provides instructions for making a protein that is found in many body tissues, with the highest amounts in the liver and intestines. This protein, together with a similar protein produced from the ABCG8 gene, forms a complex that is embedded in the membrane of cells. The ABCG5/ABCG8 complex helps regulate the amount of dietary cholesterol retained in the body by pumping excess cholesterol out of cells to be excreted from the body.
Function[edit | edit source]
The ABCG5 gene belongs to a larger family of genes known as the ATP-binding cassette (ABC) transporter genes, which provide instructions for making proteins that transport various molecules across cell membranes. The ABCG5 gene, in particular, helps control the amount of dietary cholesterol that the body retains. It does this by producing a protein that combines with a similar protein produced by the ABCG8 gene. Together, these proteins form a complex that is embedded in the membrane of cells, particularly those in the liver and intestines.
Clinical significance[edit | edit source]
Mutations in the ABCG5 gene can lead to a condition known as sitosterolemia, which is characterized by an accumulation of dietary cholesterol and plant sterols in the blood and tissues. This can lead to the formation of xanthomas, which are deposits of cholesterol in the skin and tendons, and an increased risk of atherosclerosis, a hardening and narrowing of the arteries.
See also[edit | edit source]
References[edit | edit source]
| ABCG5 Resources | |
|---|---|
|
 |
Search WikiMD
Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro / Zepbound) available.
Advertise on WikiMD
|
WikiMD's Wellness Encyclopedia |
| Let Food Be Thy Medicine Medicine Thy Food - Hippocrates |
Translate this page: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
தமிழ்,
తెలుగు,
Urdu,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
বাংলা
European
español,
Deutsch,
français,
Greek,
português do Brasil,
polski,
română,
русский,
Nederlands,
norsk,
svenska,
suomi,
Italian
Middle Eastern & African
عربى,
Turkish,
Persian,
Hebrew,
Afrikaans,
isiZulu,
Kiswahili,
Other
Bulgarian,
Hungarian,
Czech,
Swedish,
മലയാളം,
मराठी,
ਪੰਜਾਬੀ,
ગુજરાતી,
Portuguese,
Ukrainian
Medical Disclaimer: WikiMD is not a substitute for professional medical advice. The information on WikiMD is provided as an information resource only, may be incorrect, outdated or misleading, and is not to be used or relied on for any diagnostic or treatment purposes. Please consult your health care provider before making any healthcare decisions or for guidance about a specific medical condition. WikiMD expressly disclaims responsibility, and shall have no liability, for any damages, loss, injury, or liability whatsoever suffered as a result of your reliance on the information contained in this site. By visiting this site you agree to the foregoing terms and conditions, which may from time to time be changed or supplemented by WikiMD. If you do not agree to the foregoing terms and conditions, you should not enter or use this site. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.
Contributors: Prab R. Tumpati, MD
