Exon organisation of the mouse gene encoding the Adrenoleukodystrophy related protein (ALDRP).
Eur J Hum Genet
; 6(6): 638-41, 1998.
Article
em En
| MEDLINE
| ID: mdl-9887385
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.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Proteínas
/
Éxons
/
Transportadores de Cassetes de Ligação de ATP
/
Adrenoleucodistrofia
Limite:
Animals
Idioma:
En
Revista:
Eur J Hum Genet
Assunto da revista:
GENETICA MEDICA
Ano de publicação:
1998
Tipo de documento:
Article