title: Amino acid and nucleotide sequences of human peroxisomal enoyl-CoA hydratase: 3-hydroxyacyl-CoA dehydrogenase cDNA.
abstract: Deficiency of enoyl-CoA hydratase: 3-hydroxyacyl-CoA dehydrogenase (peroxisomal bifunctional enzyme), one of the enzymes of the peroxisomal beta-oxidation system, leads to clinical manifestations resembling Zellweger syndrome with hypotonia, psychomotor delay, hepatomegaly, typical facial appearance and accumulation of very long-chain fatty acids. The nucleotide sequence of the human peroxisomal enoyl-CoA hydratase: 3-hydroxyacyl-CoA dehydrogenase cDNA has been reported by Hoefler and colleagues; however, we have found some amino acid differences from our originally isolated cDNA. Contrary to the findings described in a previous paper, we report here the cDNA sequence of human peroxisomal enoyl-CoA hydratase: 3-hydroxyacyl-CoA dehydrogenase in which there are 9 authenticated amino acid alterations.
authors.affiliation: Department of Pediatrics, Gifu University School of Medicine, Japan.
authors.forename: S
authors.initials: S
authors.lastname: Fukuda
authors.forename: Y
authors.initials: Y
authors.lastname: Suzuki
authors.forename: N
authors.initials: N
authors.lastname: Shimozawa
authors.forename: Z
authors.initials: Z
authors.lastname: Zhang
authors.forename: T
authors.initials: T
authors.lastname: Orii
authors.forename: T
authors.initials: T
authors.lastname: Aoyama
authors.forename: T
authors.initials: T
authors.lastname: Hashimoto
authors.forename: N
authors.initials: N
authors.lastname: Kondo
mesh_terms: D015094:3-Hydroxyacyl CoA Dehydrogenases / Q000235:genetics*; D001483:Base Sequence; D018076:DNA, Complementary; D004746:Enoyl-CoA Hydratase / Q000235:genetics*; D006801:Humans; D007535:Isomerases; D008969:Molecular Sequence Data; D009097:Multienzyme Complexes / Q000235:genetics*; D063994:Peroxisomal Bifunctional Enzyme; D017422:Sequence Analysis, DNA
chemical_list: D018076:DNA, Complementary; D009097:Multienzyme Complexes; D015094:3-Hydroxyacyl CoA Dehydrogenases; C576253:EHHADH protein, human; D004746:Enoyl-CoA Hydratase; D063994:Peroxisomal Bifunctional Enzyme; D007535:Isomerases