Synonyms: 3 hydroxy 3 methylglutaryl Coenzyme A synthase 2 (mitochondrial),3 hydroxy 3 methylglutaryl Coenzyme A synthase 2,3 hydroxy 3 methylglutaryl coenzyme A synthase,3-hydroxy-3-methylglutaryl coenzyme A synthase,HMCS2,HMG CoA synthase,HMG-CoA synthase,HMGCS 2,HMGCS2,Hydroxymethylglutaryl CoA synthase,Hydroxymethylglutaryl CoA synthase mitochondrial,Hydroxymethylglutaryl-CoA synthase,mitochondrial
Background: 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.