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

Authors: Brooks-Wilson, A  Marcil, M  Clee, SM  Zhang, LH  Roomp, K  Van Dam, M  Yu, L  Brewer, C  Collins, JA  Molhuizen, HO  Loubser, O  Ouelette, BF  Fichter, K  Ashbourne-Excoffon, KJ  Sensen, CW  Scherer, S  Mott, S  Denis, M  Martindale, D  Frohlich, J  Morgan, K  Koop, B  Pimstone, S  Kastelein, JJ  Hayden, MR  Hayden, M R 
Citation: Brooks-Wilson A, etal., Nat Genet 1999 Aug;22(4):336-45.
Pubmed: (View Article at PubMed) PMID:10431236
DOI: Full-text: DOI:10.1038/11905

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).

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RGD Object Information
RGD ID: 1298571
Created: 2004-06-01
Species: All species
Last Modified: 2004-06-01
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.