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Science > Tangier Disease
The following information is about Tangier Disease.
Tangier Disease Defined
Genetic disorder of cholesterol transport is caused by mutations in the ABC1 (ATP-binding cassette) gene on chromosome 9q31. ABC1 codes for a protein that helps rid cells of excess cholesterol. This cholesterol is then picked up by HDL particles in the blood and carried to the liver, which processes the cholesterol to be reused in cells throughout the body. Individuals with Tangier disease are unable to eliminate cholesterol from cells, leading to its buildup in the tonsils and other organs.
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