title: TMEM70 protein - a novel ancillary factor of mammalian ATP synthase.
abstract: An increasing number of patients with nuclear genetic defects of mitochondrial ATP synthase have been identified in recent years. They are characterized by early onset, lactic acidosis, 3-methylglutaconic aciduria, hypertrophic cardiomyopathy and encephalopathy and most cases have a fatal outcome. Patient tissues show isolated defect of the ATP synthase complex and its content decreases to > or =30% of normal due to altered enzyme biosynthesis and assembly. Gene mapping and complementation studies have identified mutations in TMEM70 gene encoding a 30kD mitochondrial protein of unknown function as the cause of the disease. An altered synthesis of this new ancillary factor in ATP synthase biogenesis was found in most of the known patients with decreased ATP synthase content. As revealed by phylogenetic analysis, TMEM70 is specific for higher eukaryotes.
authors.affiliation: Department of Bioenergetics, Academy of Sciences of the Czech Republic, Vídenská 1083, 142 20 Prague 4-Krc, Czech Republic. houstek@biomed.cas.cz
authors.forename: Josef
authors.initials: J
authors.lastname: Houstek
authors.forename: Stanislav
authors.initials: S
authors.lastname: Kmoch
authors.forename: Jirí
authors.initials: J
authors.lastname: Zeman
mesh_terms: D000818:Animals; D001927:Brain Diseases / Q000235:genetics / Q000378:metabolism; D024741:Cardiomyopathy, Hypertrophic, Familial / Q000235:genetics / Q000378:metabolism; D002467:Cell Nucleus / Q000235:genetics / Q000473:pathology; D003576:Electron Transport Complex IV / Q000235:genetics / Q000378:metabolism; D005816:Genetic Complementation Test; D006801:Humans; D008322:Mammals; D008565:Membrane Proteins / Q000235:genetics*; D008928:Mitochondria / Q000235:genetics / Q000378:metabolism; D024101:Mitochondrial Proteins / Q000235:genetics*; D025261:Mitochondrial Proton-Translocating ATPases / Q000235:genetics / Q000378:metabolism*; D009154:Mutation; D010085:Oxidative Phosphorylation; D010802:Phylogeny; D013045:Species Specificity
chemical_list: D008565:Membrane Proteins; D024101:Mitochondrial Proteins; C533106:TMEM70 protein, human; D003576:Electron Transport Complex IV; D025261:Mitochondrial Proton-Translocating ATPases