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Pyridine nucleotide-disulfide oxidoreductase domain-containing protein 2 (PYROXD2) is a protein-coding gene product localized primarily to the mitochondrial inner membrane and matrix. It is predicted to have oxidoreductase activity, acting on sulfur group donors and is imported into mitochondria via Tom40 and Tim23 import machinery. PYROXD2 is involved in regulating mitochondrial function—specifically, it interacts with complex IV subunit COX5B, and is required for normal mitochondrial membrane potential, redox balance, ATP production, mtDNA copy number, and the maturity of mitochondria. Knocking out PYROXD2 impairs these functions and results in increased mitochondrial ROS levels and immature mitochondria. Disease associations include dimethylglycine dehydrogenase deficiency, trimethylaminuria, and altered expression is observed in hepatocellular carcinoma. While its biochemical role as an oxidoreductase is established, PYROXD2 is not currently used as a therapeutic target or biomarker
Not applicable, as there are no described drugs targeting PYROXD2
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