title: hCOX18 and hCOX19: two human genes involved in cytochrome c oxidase assembly.
abstract: We identified the human homologues of yCOX18 and yCOX19, two Saccharomyces cerevisiae genes involved in the biogenesis of mitochondrial respiratory chain complexes. In yeast, these two genes are required for the expression of cytochrome c oxidase: Cox18p catalyses the insertion of Cox2p COOH-tail into the mitochondrial inner membrane, and Cox19p is probably involved in metal transport to the intermembrane space. Both hCox18p and hCox19p present significant amino acid identity with the corresponding yeast polypeptides and reveal highly conserved functional domains. In addition, their subcellular localization is analogous to that of the yeast proteins. These data strongly suggest that the human gene products share similar functions with their yeast homologues. These two COX-assembly genes represent new candidates for mutational analysis in patients with isolated COX deficiency of unknown etiology.
authors.affiliation: INSERM U638, Faculté de Médicine, Université de Nice, France.
authors.forename: Sabrina
authors.initials: S
authors.lastname: Sacconi
authors.forename: Eva
authors.initials: E
authors.lastname: Trevisson
authors.forename: Francesca
authors.initials: F
authors.lastname: Pistollato
authors.forename: Maria Cristina
authors.initials: MC
authors.lastname: Baldoin
authors.forename: Roger
authors.initials: R
authors.lastname: Rezzonico
authors.forename: Isabelle
authors.initials: I
authors.lastname: Bourget
authors.forename: Claude
authors.initials: C
authors.lastname: Desnuelle
authors.forename: Romano
authors.initials: R
authors.lastname: Tenconi
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Basso
authors.forename: Salvatore
authors.initials: S
authors.lastname: DiMauro
authors.forename: Leonardo
authors.initials: L
authors.lastname: Salviati
mesh_terms: D000595:Amino Acid Sequence; D002460:Cell Line; D003576:Electron Transport Complex IV / Q000737:chemistry / Q000378:metabolism*; D006801:Humans; D007668:Kidney / Q000378:metabolism*; D008565:Membrane Proteins / Q000737:chemistry* / Q000235:genetics / Q000378:metabolism*; D008928:Mitochondria / Q000737:chemistry / Q000378:metabolism*; D024101:Mitochondrial Proteins / Q000737:chemistry* / Q000235:genetics / Q000378:metabolism*; D008958:Models, Molecular; D008969:Molecular Sequence Data; D009928:Organ Specificity; D017386:Sequence Homology, Amino Acid; D014018:Tissue Distribution
chemical_list: C506210:COX18 protein, human; C506211:COX19 protein, human; D008565:Membrane Proteins; D024101:Mitochondrial Proteins; D003576:Electron Transport Complex IV