The gene responsible for adrenoleukodystrophy encodes a peroxisomal membrane protein.
Adrenoleukodystrophy is a severe genetic demyelinating disease associated with an impairment of beta-oxidation of very long chain fatty acids (VLCFA) in peroxisomes. Earlier studies had suggested that a deficiency in VLCFA CoA synthetase was the primary defect. A candidate adrenoleukodystrophy gene has recently been cloned and was found unexpectedly to encode a putative ATP-binding cassette transporter. We have raised monoclonal antibodies against this protein, that detect a 75kDa band. This protein was absent in several patients with adrenoleukodystrophy. Immunofluorescence and immunoelectron microscopy showed that the adrenoleukodystrophy protein (ALDP) is associated with the peroxisomal membrane. Distinct immunofluorescence patterns were observed in cell lines from patients with Zellweger syndrome (a peroxisomal biogenesis disorder) belonging to different complementation groups.
Mosser
J
J
Laboratoire de Génétique Moléculaire des Eucaryotes, Unité 184 de l'INSERM, Faculté de Médecine et CHRU, Strasbourg, France.
Lutz
Y
Y
Stoeckel
M E
ME
Sarde
C O
CO
Kretz
C
C
Douar
A M
AM
Lopez
J
J
Aubourg
P
P
Mandel
J L
JL
D000074063:ATP Binding Cassette Transporter, Subfamily D, Member 1; D018528:ATP-Binding Cassette Transporters; D000326:Adrenoleukodystrophy / Q000235:genetics*; D000818:Animals; D000911:Antibodies, Monoclonal / Q000276:immunology; D001483:Base Sequence; D006528:Carcinoma, Hepatocellular; D002352:Carrier Proteins / Q000235:genetics* / Q000276:immunology; D002478:Cells, Cultured; D002522:Chlorocebus aethiops; D005347:Fibroblasts / Q000737:chemistry; D005796:Genes; D006801:Humans; D007425:Intracellular Membranes / Q000737:chemistry*; D008113:Liver Neoplasms; D008297:Male; D008565:Membrane Proteins / Q000235:genetics* / Q000276:immunology; D008830:Microbodies / Q000737:chemistry*; D016253:Microscopy, Immunoelectron; D008969:Molecular Sequence Data; D011993:Recombinant Fusion Proteins / Q000378:metabolism; D014162:Transfection; D014407:Tumor Cells, Cultured; D015211:Zellweger Syndrome / Q000235:genetics / Q000473:pathology
C115572:ABCD1 protein, human; D000074063:ATP Binding Cassette Transporter, Subfamily D, Member 1; D018528:ATP-Binding Cassette Transporters; D000911:Antibodies, Monoclonal; D002352:Carrier Proteins; D008565:Membrane Proteins; D011993:Recombinant Fusion Proteins