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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.
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Protein Aliases: 3-hydroxy-3-methylglutary-Coenzyme A synthase 2; 3-hydroxy-3-methylglutaryl coenzyme A synthase; 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial); 3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2 (mitochondrial); HMG-CoA synthase; hydroxymethylglutaryl-CoA synthase 2; Hydroxymethylglutaryl-CoA synthase, mitochondrial; testicular tissue protein Li 88
Gene Aliases: Hmgcs1; HMGCS2; Mt3h3mg
UniProt ID: (Human) P54868, (Rat) P22791
Entrez Gene ID: (Human) 3158, (Rat) 24450
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