enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase

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NCBI Description of EHHADH

The protein encoded by this gene is a bifunctional enzyme and is one of the four enzymes of the peroxisomal beta-oxidation pathway. The N-terminal region of the encoded protein contains enoyl-CoA hydratase activity while the C-terminal region contains 3-hydroxyacyl-CoA dehydrogenase activity. Defects in this gene are a cause of peroxisomal disorders such as Zellweger syndrome. Two transcript variants encoding different isoforms have been found for this gene.

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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).


EHHADH is highly significantly mutated in
EHHADH is significantly mutated in
EHHADH is near significance in

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

Data details

Mutation list for EHHADH