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This gene encodes a mitochondrial complex I assembly protein that interacts with complex I subunits. Mutations in this gene cause mitochondrial complex I deficiency, a fatal neonatal disorder of the oxidative phosphorylation system. Alternatively spliced transcript variants encoding different isoforms have been identified.
2P1; 4733401H18Rik; C3orf60; E3-3; fc05g04; NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 3; NADH dehydrogenase (ubiquinone) complex I, assembly factor 3; NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 3; NADH:ubiquinone oxidoreductase complex assembly factor; NADH:ubiquinone oxidoreductase complex assembly factor 3; NDUFAF3; Nuclear protein E3-3; protein 2P1; RGD708545; wu:fc05g04; zgc:153176
100 µL
400 µL
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