ABCG8

ABCG8 is a gene that provides instructions for making a protein that is part of a group of proteins known as ATP-binding cassette (ABC) transporters. ABC transporters move various molecules across the inner and outer membranes of cells. The ABCG8 protein works together with another ABC transporter protein, ABCG5, to limit the absorption and promote the excretion of dietary cholesterol and certain plant sterols.

Function

The ABCG8 gene provides instructions for making one part (subunit) of a protein complex that transports certain fats across cell membranes. This complex, known as the ABCG5-ABCG8 complex, is found in the liver and in cells lining the gallbladder and the intestine. The complex plays a critical role in controlling the amount of cholesterol and other dietary fats in the body.

Clinical significance

Mutations in the ABCG8 gene can cause sitosterolemia, a rare inherited disorder in which plant sterols accumulate in the blood and tissues. This condition is characterized by the formation of small yellowish growths (xanthomas) in the skin and tendons, and by an increased risk of premature heart disease.

See also

• ATP-binding cassette transporter
• Sitosterolemia
• ABCG5

References

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External links

• NCBI Gene
• Genetics Home Reference

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