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HMGCS2 / HMG-CoA Synthase 2 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.
Gene Name: | 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) |
Synonyms: | HMGCS2, HMG-CoA synthase |
Target Sequences: | NM_005518 NP_005509.1 P54868 |
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