TMEM70 protein - a novel ancillary factor of mammalian ATP synthase
Language English Country Netherlands Media print-electronic
Document type Journal Article, Research Support, Non-U.S. Gov't
PubMed
19103153
DOI
10.1016/j.bbabio.2008.11.013
PII: S0005-2728(08)00731-7
Knihovny.cz E-resources
- MeSH
- Cell Nucleus genetics pathology MeSH
- Species Specificity MeSH
- Cardiomyopathy, Hypertrophic, Familial genetics metabolism MeSH
- Phylogeny MeSH
- Humans MeSH
- Membrane Proteins genetics MeSH
- Mitochondrial Proteins genetics MeSH
- Mitochondrial Proton-Translocating ATPases genetics metabolism MeSH
- Mitochondria genetics metabolism MeSH
- Mutation MeSH
- Brain Diseases genetics metabolism MeSH
- Oxidative Phosphorylation MeSH
- Electron Transport Complex IV genetics metabolism MeSH
- Mammals MeSH
- Genetic Complementation Test MeSH
- Animals MeSH
- Check Tag
- Humans MeSH
- Animals MeSH
- Publication type
- Journal Article MeSH
- Research Support, Non-U.S. Gov't MeSH
- Names of Substances
- Membrane Proteins MeSH
- Mitochondrial Proteins MeSH
- Mitochondrial Proton-Translocating ATPases MeSH
- Electron Transport Complex IV MeSH
- TMEM70 protein, human MeSH Browser
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.
References provided by Crossref.org
Evolution and diversification of the nuclear envelope
