Cholesterol efflux regulatory protein, Tangier disease and familial high-density lipoprotein deficiency.
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.
Hayden
M R
MR
Centre for Molecular Medicine & Therapeutics, Department of Medical Genetics, University of British Columbia, Vancouver, Canada. mrh@cmmt.ubc.ca
Clee
S M
SM
Brooks-Wilson
A
A
Genest
J
J
Attie
A
A
Kastelein
J J
JJ
D064286:ATP Binding Cassette Transporter 1; D018528:ATP-Binding Cassette Transporters / Q000235:genetics / Q000378:metabolism* / Q000502:physiology; D002784:Cholesterol / Q000378:metabolism; D006801:Humans; D008075:Lipoproteins, HDL / Q000172:deficiency / Q000378:metabolism; D008954:Models, Biological; D013631:Tangier Disease / Q000378:metabolism*
C577836:ABCA1 protein, human; D064286:ATP Binding Cassette Transporter 1; D018528:ATP-Binding Cassette Transporters; D008075:Lipoproteins, HDL; D002784:Cholesterol