Full name: 3-hydroxy-3-methylglutaryl-CoA synthase 2

Gene type: protein coding

RefSeq status: REVIEWED

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]

Expression: Biased expression in liver (RPKM 471.6), colon (RPKM 127.8) and 5 other tissues

Gene size: 20937bp

Exon count: 10