The protein coded by the X-adrenoleukodystrophy gene is a peroxisomal integral membrane protein.
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.
Contreras
M
M
Department of Pediatrics, Medical University of South Carolina, Charleston 29425.
Mosser
J
J
Mandel
J L
JL
Aubourg
P
P
Singh
I
I
D000326:Adrenoleukodystrophy / Q000235:genetics*; D000911:Antibodies, Monoclonal; D015153:Blotting, Western; D002458:Cell Fractionation; D002478:Cells, Cultured; D002500:Centrifugation, Isopycnic; D003066:Coenzyme A Ligases / Q000378:metabolism; D005227:Fatty Acids / Q000378:metabolism; D005347:Fibroblasts / Q000648:ultrastructure; D008040:Genetic Linkage; D006801:Humans; D007425:Intracellular Membranes / Q000737:chemistry*; D008565:Membrane Proteins / Q000235:genetics*; D008830:Microbodies / Q000737:chemistry* / Q000648:ultrastructure; D010084:Oxidation-Reduction; D014960:X Chromosome
D000911:Antibodies, Monoclonal; D005227:Fatty Acids; D008565:Membrane Proteins; D003066:Coenzyme A Ligases; C044125:lignoceroyl-CoA ligase; C010210:lignoceric acid