Mutations in the ABC1 gene in Tangier disease and familial high-density lipoprotein deficiency

Angela Brooks-Wilson, Michel Marcil, Susanne M. Clee, Lin-Hua Zang, Kirsten Roomp, Marjel van Dam, Lu Yu, Carl Brewer, Jennifer A. Collins, Henri OF Molhuizen,, Odell Loubser, B.F. Francis Ouelette, Keith Fichter, Katherine J.D. Ashbourne-Excoffon, Christoph Wilhelm Sensen, Stephen Scherer, Stephanie Mott, Maxime Denis, Duane Martindale, Jiri FrohlichKenneth Morgan, Ben Koop, Simon Pimstone, John JP Kastelein, Jacques Genest Jr., Michael R. Hayden

    Research output: Contribution to journalArticlepeer-review


    Genes have a major role in the control of high-density lipoprotein (HDL) cholesterol (HDL-C) levels. Here we have identified two Tangier disease (TD) families, confirmed 9q31 linkage and refined the disease locus to a limited genomic region containing the gene encoding the ATP-binding cassette transporter (ABC1). Familial HDL deficiency (FHA) is a more frequent cause of low HDL levels. On the basis of independent linkage and meiotic recombinants, we localized the FHA locus to the same genomic region as the TD locus. Mutations in ABC1 were detected in both TD and FHA, indicating that TD and FHA are allelic. This indicates that the protein encoded by ABC1 is a key gatekeeper influencing intracellular cholesterol transport, hence we have named it cholesterol efflux regulatory protein (CERP).
    Original languageEnglish
    Pages (from-to)336-345
    JournalNature Genetics
    Publication statusPublished - 1999

    Fields of Expertise

    • Human- & Biotechnology


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