The protein coded by the X-adrenoleukodystrophy gene is a peroxisomal integral membrane protein

FEBS Lett. 1994 May 16;344(2-3):211-5. doi: 10.1016/0014-5793(94)00400-5.


The gene for adrenoleukodystrophy (X-ALD), a peroxisomal disease characterized by excessive accumulation of very long-chain (VLC) fatty acids (> C22:0), has recently been identified by positional cloning, and it is predicted to encode a protein (ALD-P) of 745 amino acids [(1993) Nature 361, 726]. Using Western blot analysis of subcellular organelles purified by isopycnic density gradient centrifugation from X-ALD and control fibroblasts, we show that the monoclonal antibodies directed against ALD-P cross-react with a 75 kDa protein in intact peroxisomes and that ALD-P is an integral component of the peroxisomal membrane. Moreover, no signal for ALD-P was detected in peroxisomes from X-ALD patients with deletion of the ALD gene.

Publication types

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

MeSH terms

  • Adrenoleukodystrophy / genetics*
  • Antibodies, Monoclonal
  • Blotting, Western
  • Cell Fractionation
  • Cells, Cultured
  • Centrifugation, Isopycnic
  • Coenzyme A Ligases / metabolism
  • Fatty Acids / metabolism
  • Fibroblasts / ultrastructure
  • Genetic Linkage
  • Humans
  • Intracellular Membranes / chemistry*
  • Membrane Proteins / genetics*
  • Microbodies / chemistry*
  • Microbodies / ultrastructure
  • Oxidation-Reduction
  • X Chromosome*


  • Antibodies, Monoclonal
  • Fatty Acids
  • Membrane Proteins
  • Coenzyme A Ligases
  • lignoceroyl-CoA ligase
  • lignoceric acid