ECHS1 Back

enoyl Coenzyme A hydratase, short chain, 1, mitochondrial

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NCBI Description of ECHS1
The protein encoded by this gene functions in the second step of the mitochondrial fatty acid beta-oxidation pathway. It catalyzes the hydration of 2-trans-enoyl-coenzyme A (CoA) intermediates to L-3-hydroxyacyl-CoAs. The gene product is a member of the hydratase/isomerase superfamily. It localizes to the mitochondrial matrix. Transcript variants utilizing alternative transcription initiation sites have been described in the literature.

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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

ECHS1 is highly significantly mutated in
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ECHS1 is significantly mutated in
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ECHS1 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 ECHS1