Gene Symbol | HMGCS2 |
Entrez Gene ID | 3158 |
Full Name | 3-hydroxy-3-methylglutaryl-CoA synthase 2 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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.[provided by RefSeq, Oct 2009]. |
Disorder MIM: | |
Disorder Html: | HMG-CoA synthase-2 deficiency, 605911 (3) |