Identification of a fourth half ABC transporter in the human peroxisomal membrane

Hum Mol Genet. 1997 Oct;6(11):1925-31. doi: 10.1093/hmg/6.11.1925.

Abstract

Three half ATP-binding cassette transporters (ALDP, ALDR, PMP70) are known to be present in the human peroxisome membrane. Mutations in the gene encoding ALDP cause X-linked adrenoleukodystrophy; the role of ALDR and PMP70 in human disease is unclear. We report the cloning and characterization of a fourth human gene encoding a peroxisomal half ABC transporter. The gene, designated P70R, maps to chromosome 14q24, encodes a 73 kDa transporter most similar to PMP70, and is expressed in all human tissues examined. Because half ABC transporters heterodimerize to form functional transporters, the identification of a fourth member of this family in the peroxisome membrane has implications for our understanding of mammalian peroxisomes and the genetic disorders of peroxisomal function.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • ATP-Binding Cassette Transporters / genetics*
  • ATP-Binding Cassette Transporters / metabolism
  • Amino Acid Sequence
  • Animals
  • Cell Line
  • Cell Membrane / metabolism
  • Chromosomes, Human, Pair 14*
  • Cloning, Molecular
  • DNA, Complementary
  • Gene Expression
  • Humans
  • Immunoblotting
  • Membrane Proteins*
  • Microbodies / metabolism*
  • Molecular Sequence Data
  • Subcellular Fractions

Substances

  • ABCD3 protein, human
  • ABCD4 protein, human
  • ATP-Binding Cassette Transporters
  • DNA, Complementary
  • Membrane Proteins