Aliases for HMGCS2 Gene
External Ids for HMGCS2 Gene
Previous GeneCards Identifiers for HMGCS2 Gene
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]
GeneCards Summary for HMGCS2 Gene
HMGCS2 (3-Hydroxy-3-Methylglutaryl-CoA Synthase 2) is a Protein Coding gene. Diseases associated with HMGCS2 include Hmg-Coa Synthase-2 Deficiency and Smith-Lemli-Opitz Syndrome. Among its related pathways are Validated targets of C-MYC transcriptional repression and Ketone body metabolism. GO annotations related to this gene include hydroxymethylglutaryl-CoA synthase activity. An important paralog of this gene is HMGCS1.
UniProtKB/Swiss-Prot for HMGCS2 Gene
This enzyme condenses acetyl-CoA with acetoacetyl-CoA to form HMG-CoA, which is the substrate for HMG-CoA reductase.