Article
Naturally occurring mutations in the largest extracellular loops of ABCA1 can disrupt its direct interaction with apolipoprotein A-I.
The Journal of biological chemistry - 6 Sept 2002
Fitzgerald Michael L, Morris Andrea L, Rhee Jeongmi S, Andersson Lorna P, Mendez Armando J, Freeman Mason W
Abstract excerpt
The ABCA1 transporter contains two large domains into which many of the genetic mutations in individuals with Tangier disease fall. To investigate the structural requirements for the cellular cholesterol efflux mediated by ABCA1, we have determined the topology of these two domains and generated transporters harboring five naturally occurring missense mutations in them. These mutants, unlike wild type ABCA1,...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.