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Cholesterol efflux regulatory protein, Tangier disease and familial high-density lipoprotein deficiency

Hayden, Michael R.a; Clee, Susanne M.a; Brooks-Wilson, Angelaa,e; Genest, Jacques Jrb; Attie, Alanc; Kastelein, John J. P.d

Current Opinion in Lipidology: April 2000 - Volume 11 - Issue 2 - p 117-122
Review Article

Cellular cholesterol efflux, by which cholesterol is transported from peripheral cells to HDL acceptor molecules for transport to the liver, is the first step of reverse cholesterol transport. Two genetic disorders, Tangier disease and some cases of familial HDL deficiency, have defects of cellular cholesterol efflux. The recent discovery of mutations in the ABC1 gene, which encodes the cholesterol efflux regulatory protein, in both these disorders establishes cholesterol efflux regulatory protein as a rate-limiting factor in reverse cholesterol transport.

aCentre for Molecular Medicine & Therapeutics, Department of Medical Genetics, University of British Columbia, Vancouver, and bCardiovascular Genetics, Clinical Research Institute of Montreal, Montreal, Canada, and cCollege of Agricultural and Life Sciences, University of Wisconsin, Madison, Wisconsin, USA, and dDepartment of Vascular Medicine, Academic Medical Centre, Amsterdam, The Netherlands, and eXenon Bioresearch Inc, Vancouver, Canada

Correspondence to Michael R. Hayden, Centre for Molecular Medicine & Therapeutics, University of British Columbia, 950 West 28th Avenue, Vancouver, BC V5Z 4H4, Canada. Tel: +604 875 3535; fax: +1 604 875 3840; e-mail:

© 2000 Wolters Kluwer Health | Lippincott Williams & Wilkins