Exon organisation of the mouse gene encoding the Adrenoleukodystrophy related protein (ALDRP) - Archive ouverte HAL Accéder directement au contenu
Article Dans Une Revue European Journal of Human Genetics Année : 1998

Exon organisation of the mouse gene encoding the Adrenoleukodystrophy related protein (ALDRP)

Résumé

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.

Dates et versions

hal-04022404 , version 1 (09-03-2023)

Identifiants

Citer

Cyril Broccardo, Nathalie Troffer-Charlier, Stephane Savary, Jean-Louis Mandel, Giovanna Chimini. Exon organisation of the mouse gene encoding the Adrenoleukodystrophy related protein (ALDRP). European Journal of Human Genetics, 1998, 6, pp.638-641. ⟨10.1038/sj.ejhg.5200233⟩. ⟨hal-04022404⟩
13 Consultations
0 Téléchargements

Altmetric

Partager

Gmail Facebook X LinkedIn More