HMGCS2 Back

3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2 (mitochondrial)

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NCBI Description of HMGCS2
The protein encoded by this gene belongs to the HMG-CoA synthase family. It is a mitochondrial enzyme that catalyzes the first reaction of ketogenesis, a metabolic pathway that provides lipid-derived energy for various organs during times of carbohydrate deprivation, such as fasting. Mutations in this gene are associated with HMG-CoA synthase deficiency. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.

Community Annotation of HMGCS2 Add / Edit HMGCS2: Annotations

No community annotations yet for HMGCS2.
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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

HMGCS2 is highly significantly mutated in
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HMGCS2 is significantly mutated in
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HMGCS2 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 HMGCS2