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Exon organisation of the mouse gene encoding the Adrenoleukodystrophy related protein (ALDRP).
Broccardo, C; Troffer-Charlier, N; Savary, S; Mandel, J L; Chimini, G.
Afiliação
  • Broccardo C; Centre d'Immunologie INSERM-CNRS de Marseille-Luminy, Marseille.
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.
Assuntos
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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
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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