Human ATP-binding cassette transporter 1 (ABC1): Genomic organization and identification of the genetic defect in the original Tangier disease kindred

Abstract excerpt

Tangier disease is characterized by low serum high density lipoproteins and a biochemical defect in the cellular efflux of lipids to high density lipoproteins. ABC1, a member of the ATP-binding cassette family, recently has been identified as the defective gene in Tangier disease. We report here the organization of the human ABC1 gene and the identification of a mutation in the ABC1 gene from the original Tangier...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Cholesterol and Lipid Metabolism
• Share to Drug Transport and Resistance Mechanisms
• Share to RNA Research and Splicing