ETHE1 Back

ethylmalonic encephalopathy 1

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NCBI Description of ETHE1

This gene encodes a sulfur dioxygenase that localizes within the mitochondrial matrix. The enzyme functions in sulfide catabolism. Mutations in this gene result in ethylmalonic encephalopathy.

Community Annotation of ETHE1 Add / Edit ETHE1: 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).


ETHE1 is highly significantly mutated in
ETHE1 is significantly mutated in
ETHE1 is near significance in

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

Data details

Mutation list for ETHE1