Article
The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease.
Nature genetics - 1 Aug 1999
Bodzioch M, Orsó E, Klucken J, Langmann T, Böttcher A, Diederich W, Drobnik W, Barlage S, Büchler C, Porsch-Ozcürümez M, Kaminski W E, Hahmann H W, Oette K, Rothe G, Aslanidis C, Lackner K J, Schmitz G
Abstract excerpt
Tangier disease (TD) is an autosomal recessive disorder of lipid metabolism. It is characterized by absence of plasma high-density lipoprotein (HDL) and deposition of cholesteryl esters in the reticulo-endothelial system with splenomegaly and enlargement of tonsils and lymph nodes. Although low HDL cholesterol is associated with an increased risk for coronary artery disease, this condition is not consistently...
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