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

Nat Genet. 1999 Aug;22(4):336-45. 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).

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • ATP Binding Cassette Transporter 1
  • ATP-Binding Cassette Transporters / genetics*
  • ATP-Binding Cassette Transporters / metabolism
  • Adult
  • Amino Acid Sequence
  • Base Sequence
  • Cholesterol, HDL / deficiency*
  • Chromosomes, Human, Pair 9
  • Female
  • Genetic Linkage
  • Genetic Markers
  • Glycoproteins / genetics*
  • Glycoproteins / metabolism
  • Humans
  • Male
  • Models, Genetic
  • Molecular Sequence Data
  • Mutation*
  • Pedigree
  • Physical Chromosome Mapping
  • Sequence Homology, Amino Acid
  • Tangier Disease / genetics*


  • ABCA1 protein, human
  • ATP Binding Cassette Transporter 1
  • ATP-Binding Cassette Transporters
  • Cholesterol, HDL
  • Genetic Markers
  • Glycoproteins

Associated data

  • GENBANK/AJ012376
  • GENBANK/X75926