NDUFA2 Back

NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa

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NCBI Description of NDUFA2
The encoded protein is a subunit of the hydrophobic protein fraction of the NADH:ubiquinone oxidoreductase (complex 1), the first enzyme complex in the electron transport chain located in the inner mitochondrial membrane, and may be involved in regulating complex I activity or its assembly via assistance in redox processes. Mutations in this gene are associated with Leigh syndrome, an early-onset progressive neurodegenerative disorder. Alternative splicing results in multiple transcript variants.

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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

NDUFA2 is highly significantly mutated in
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NDUFA2 is significantly mutated in
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NDUFA2 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 NDUFA2