基因名：
HMGCS2
产品别名：
HMGCS2； 3-hydroxy-3-methylglutaryl-CoA synthase 2； 3-hydroxy-3-methylglutaryl-CoA synthase 2； hydroxymethylglutaryl-CoA synthase, mitochondrial； 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)； 3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2 (mitochondrial)； HMG-CoA synthase； testicular tissue protein Li 88； 三羟基三甲基辅酶A合成酶2； 羟甲基戊二酰辅酶A合酶2(HMGCS2)；
背景信息：
HMGCS2 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.
