HMGCS2

3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) is an is_associated_with::enzyme in humans that is encoded by the HMGCS2 is_associated_with::gene.

The protein encoded by this gene belongs to the is_associated_with::HMG-CoA synthase family. It is a mitochondrial enzyme that catalyzes the first reaction of is_associated_with::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 is_associated_with::transcript variants encoding different isoforms have been found for this gene.