HMGCS2, Official Symbol HMGCS2provided by HGNC Official Full Name 3-hydroxy-3-methylglutaryl-CoA synthase 2provided by HGNC Primary source HGNC:HGNC:5008 See related Ensembl:ENSG00000134240 MIM:600234; AllianceGenome:HGNC:5008 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo 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 See more Orthologs mouse all