Human mitochondrial pyrophosphatase hPPA2: In vitro and in silico study of the factors affecting its function
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Biallelic mutations in a nuclear gene PPA2 in human encoding mitochondrial inorganic pyrophosphatase hPPA2 cause mitochondrial disfunctions leading to severe cardiac pathology. This protein catalyzes a Mg2+-dependent hydrolysis of pyrophosphate, a by-product o... ...
