HMGCL Back

3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase (hydroxymethylglutaricaciduria)

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NCBI Description of HMGCL
The protein encoded by this gene belongs to the HMG-CoA lyase family. It is a mitochondrial enzyme that catalyzes the final step of leucine degradation and plays a key role in ketone body formation. Mutations in this gene are associated with HMG-CoA lyase deficiency. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.

Community Annotation of HMGCL Add / Edit HMGCL: Annotations

No community annotations yet for HMGCL.
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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

HMGCL is highly significantly mutated in
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HMGCL is significantly mutated in
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HMGCL 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 HMGCL