cDNA cloning and mRNA expression of the human adrenoleukodystrophy related protein (ALDRP), a peroxisomal ABC transporter

Biochem Biophys Res Commun. 1997 Oct 9;239(1):261-4. doi: 10.1006/bbrc.1997.7391.


We have cloned the cDNA containing the complete coding region of the human adrenoleukodystrophy related (ALDR) gene. The 2220-bp open reading frame encodes a 740-amino-acid polypeptide with a predicted molecular weight of 83.3 kDa. The human ALDR protein displays high similarity (62.8% identical amino acid residues) to the human adrenoleukodystrophy (ALD) gene. Analysis of ALDR expression revealed the presence of ALDR mRNA in a variety of human tissues, predominantly in brain and heart. This expression pattern is different from all other known peroxisomal ABC-transporters. Defects in the ALD gene are the primary cause of adrenoleukodystrophy, a demyelinating disorder of the central nervous system. The ALD protein (ALDP) and the ALDR gene product are peroxisomal membrane proteins belonging to the superfamily of transporters containing an ATP-binding cassette (ABC-transporters). All known peroxisomal ABC-transporters represent only one-half of a functional transporter. They are expected to form dimers either as a homodimer or as a heterodimer. ALDRP is a potential dimerization partner of ALDP or other peroxisomal ABC-transporters. The ALDR gene is a candidate for a modifier gene, accounting for the strikingly varying clinical courses of ALD observed even within a family.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • ATP Binding Cassette Transporter, Subfamily D
  • ATP-Binding Cassette Transporters*
  • Adrenoleukodystrophy*
  • Amino Acid Sequence
  • Cloning, Molecular
  • DNA, Complementary / chemistry
  • Humans
  • Molecular Sequence Data
  • Proteins / genetics*
  • RNA, Messenger / metabolism
  • Sequence Alignment
  • Tissue Distribution


  • ABCD2 protein, human
  • ATP Binding Cassette Transporter, Subfamily D
  • ATP-Binding Cassette Transporters
  • DNA, Complementary
  • Proteins
  • RNA, Messenger

Associated data

  • GENBANK/AJ000327