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.

References[edit | edit source]

ABCG5 Resources
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