Hydroxymethylglutaryl Coenzyme A Synthase 2, Mitochondrial (HMGCS2)

HMGCS2 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.Mitochondrial 3-hydroxy-3-methylglutaryl CoA synthase (HMGCS2) mediates the first reaction of ketogenesis, a metabolic pathway that provides lipid-derived energy for brain, heart, kidney, and other organs during times of carbohydrate deprivation such as fasting .