title: Two novel missense mutations in the ATP-binding domain of the adrenoleukodystrophy gene: immunoblotting and immunocytological study of two patients.
abstract: Two novel missense mutations, 1939G to A (R518Q) and 2017A to G (Q544R) were identified in Japanese patients with adrenoleukodystrophy (ALD). They are located in exon 6, which encodes part of the putative adenosine triphosphate binding domain of ALD protein. The ALD protein carrying the R518Q mutation was undetectable in fibroblasts, by immunoblot and immunofluorescence analysis, while the Q544R mutation had no apparent effect on the stability and localization of the ALD protein, but is expected to affect its function.
authors.affiliation: Department of Pediatrics, Gifu University School of Medicine, Tsukasa-machi, Japan.
authors.forename: A
authors.initials: A
authors.lastname: Imamura
authors.forename: Y
authors.initials: Y
authors.lastname: Suzuki
authors.forename: X Q
authors.initials: XQ
authors.lastname: Song
authors.forename: T
authors.initials: T
authors.lastname: Fukao
authors.forename: A
authors.initials: A
authors.lastname: Uchiyama
authors.forename: N
authors.initials: N
authors.lastname: Shimozawa
authors.forename: K
authors.initials: K
authors.lastname: Kamijo
authors.forename: T
authors.initials: T
authors.lastname: Hashimoto
authors.forename: T
authors.initials: T
authors.lastname: Orii
authors.forename: N
authors.initials: N
authors.lastname: Kondo
mesh_terms: D000074063:ATP Binding Cassette Transporter, Subfamily D, Member 1; D018528:ATP-Binding Cassette Transporters / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D000255:Adenosine Triphosphate / Q000378:metabolism*; D000326:Adrenoleukodystrophy / Q000235:genetics*; D000818:Animals; D001665:Binding Sites; D005091:Exons; D019084:Fluorescent Antibody Technique, Indirect; D006367:HeLa Cells; D006801:Humans; D015151:Immunoblotting; D008565:Membrane Proteins / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D009154:Mutation; D009692:Nucleic Acid Heteroduplexes
chemical_list: C115572:ABCD1 protein, human; D000074063:ATP Binding Cassette Transporter, Subfamily D, Member 1; D018528:ATP-Binding Cassette Transporters; D008565:Membrane Proteins; D009692:Nucleic Acid Heteroduplexes; D000255:Adenosine Triphosphate