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

MR Hayden, SM Clee, A Brooks-Wilson… - Current opinion in …, 2000 - journals.lww.com
MR Hayden, SM Clee, A Brooks-Wilson, J Genest Jr, A Attie, JJP Kastelein
Current opinion in lipidology, 2000journals.lww.com
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.
Abstract
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.
Lippincott Williams & Wilkins