NDUFAF3 - NADH:ubiquinone oxidoreductase complex assembly factor 3
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. [provided by RefSeq, Jul 2009]
NCBI Orthologs
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Protein alignment
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Species | Gene | Architecture | aa |
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