Entrez gene ID | | 3158 |
Official gene symbol | | HMGCS2 |
Full name | | 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) |
Aliases | | ,-, |
Gene summary | | 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. |
Location | | Chromosome: 1 Locus: 1p13-p12 |
Gene position | | 120311555 - 120290619 Map Viewer |
Gene orientation | | minus |
Gene size | | 20937 bp |
Gene sequence |
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