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TMEM70 protein - a novel ancillary factor of mammalian ATP synthase

Josef Houštěk, Stanislav Kmoch, Jiří Zeman

. 2009 ; 1787 (5) : 529-532.

Jazyk angličtina Země Nizozemsko

Typ dokumentu práce podpořená grantem

Perzistentní odkaz   https://www.medvik.cz/link/bmc14080314

Grantová podpora
NS9759 MZ0 CEP - Centrální evidence projektů

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.

Citace poskytuje Crossref.org

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