NDUFA12 Back

NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12

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NCBI Description of NDUFA12
This gene encodes a protein which is part of mitochondrial complex 1, part of the oxidative phosphorylation system in mitochondria. Complex 1 transfers electrons to ubiquinone from NADH which establishes a proton gradient for the generation of ATP. Mutations in this gene are associated with Leigh syndrome due to mitochondrial complex 1 deficiency. Pseudogenes of this gene are located on chromosomes 5 and 13. Alternative splicing results in multiple transcript variants.

Community Annotation of NDUFA12 Add / Edit NDUFA12: Annotations

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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

NDUFA12 is highly significantly mutated in
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NDUFA12 is significantly mutated in
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NDUFA12 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 NDUFA12