NDUFAF1 Back

NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 1

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NCBI Description of NDUFAF1
This gene encodes a complex I assembly factor protein. Complex I (NADH-ubiquinone oxidoreductase) catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme Q) in the first step of the mitochondrial respiratory chain, resulting in the translocation of protons across the inner mitochondrial membrane. The encoded protein is required for assembly of complex I, and mutations in this gene are a cause of mitochondrial complex I deficiency. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 19.

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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).


Legend

NDUFAF1 is highly significantly mutated in
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NDUFAF1 is significantly mutated in
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NDUFAF1 is near significance in
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Click on a tumor type to see its full list of significant genes.

Data details


• Mutation list for NDUFAF1