NDUFAF6
Protein-coding gene in the species Homo sapiens / From Wikipedia, the free encyclopedia
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NADH:ubiquinone oxidoreductase complex assembly factor 6 is a protein that in humans is encoded by the NDUFAF6 gene. The protein is involved in the assembly of complex I in the mitochondrial electron transport chain.[4] Mutations in the NDUFAF6 gene have been shown to cause Complex I deficiency, Leigh syndrome, and Acadian variant Fanconi Syndrome.[5]
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Aliases | NDUFAF6, C8orf38, NADH:ubiquinone oxidoreductase complex assembly factor 6 | ||||||||||||||||||||||||
External IDs | OMIM: 612392 MGI: 1924197 HomoloGene: 43831 GeneCards: NDUFAF6 | ||||||||||||||||||||||||
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