ACADVL Back

acyl-Coenzyme A dehydrogenase, very long chain

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NCBI Description of ACADVL

The protein encoded by this gene is targeted to the inner mitochondrial membrane where it catalyzes the first step of the mitochondrial fatty acid beta-oxidation pathway. This acyl-Coenzyme A dehydrogenase is specific to long-chain and very-long-chain fatty acids. A deficiency in this gene product reduces myocardial fatty acid beta-oxidation and is associated with cardiomyopathy. Alternative splicing results in multiple transcript variants encoding different isoforms.

Community Annotation of ACADVL Add / Edit ACADVL: 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

ACADVL is highly significantly mutated in
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ACADVL is significantly mutated in
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ACADVL 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 ACADVL