OTC Back

ornithine carbamoyltransferase

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NCBI Description of OTC
This nuclear gene encodes a mitochondrial matrix enzyme. Missense, nonsense, and frameshift mutations in this enzyme lead to ornithine transcarbamylase deficiency, which causes hyperammonemia. Since the gene for this enzyme maps close to that for Duchenne muscular dystrophy, it may play a role in that disease also.

Community Annotation of OTC Add / Edit OTC: 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

OTC is highly significantly mutated in
(none)
OTC is significantly mutated in
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OTC 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 OTC