NADH dehydrogenase (ubiquinone) complex I, assembly factor 3

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NCBI Description of NDUFAF3

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.

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Figure notes

• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


NDUFAF3 is highly significantly mutated in
NDUFAF3 is significantly mutated in
NDUFAF3 is near significance in

Click on a tumor type to see its full list of significant genes.

Data details

Mutation list for NDUFAF3