title: Exon organisation of the mouse gene encoding the Adrenoleukodystrophy related protein (ALDRP).
abstract: ALDR is one of the four genes encoding an ATP Binding Cassette (ABC) hemi-transporter of the peroxisomal membrane so far identified in mammalian cells. The best known of these is X-ALD, whose dysfunction has been causally associated with X-linked adrenoleukodystrophy. ALDR and X-ALD protein product are closely related and we show here that this striking conservation is maintained at the genomic level. Although extending to a larger genomic region, the organisation of the mouse ALDR gene mirrors exactly that of X-ALD. This supports further the hypothesis that among the four known peroxisomal ABC hemi-transporters ALDRP is the most likely candidate as a modifier contributing to the phenotypic variability of X-linked adrenoleukodystrophy.
authors.affiliation: Centre d'Immunologie INSERM-CNRS de Marseille-Luminy, Marseille.
authors.forename: C
authors.initials: C
authors.lastname: Broccardo
authors.forename: N
authors.initials: N
authors.lastname: Troffer-Charlier
authors.forename: S
authors.initials: S
authors.lastname: Savary
authors.forename: J L
authors.initials: JL
authors.lastname: Mandel
authors.forename: G
authors.initials: G
authors.lastname: Chimini
mesh_terms: D000074061:ATP Binding Cassette Transporter, Subfamily D; D018528:ATP-Binding Cassette Transporters; D000326:Adrenoleukodystrophy / Q000235:genetics*; D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D018076:DNA, Complementary; D005091:Exons; D051379:Mice; D008969:Molecular Sequence Data; D011506:Proteins / Q000235:genetics*; D015183:Restriction Mapping; D017386:Sequence Homology, Amino Acid; D014960:X Chromosome
chemical_list: C431694:ABCD2 protein, human; D000074061:ATP Binding Cassette Transporter, Subfamily D; D018528:ATP-Binding Cassette Transporters; D018076:DNA, Complementary; D011506:Proteins