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NDUFAF3 is 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.
Gene Name: | NADH dehydrogenase (ubiquinone) complex I, assembly factor 3 |
Synonyms: | NDUFAF3, 2P1, C3orf60, E3-3, DKFZP564J0123, Nuclear protein E3-3 |
Target Sequences: | NM_199069 NP_951032.1 Q9BU61 |
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