基因注释：HMGCS2

官方名称：3-hydroxy-3-methylglutaryl-CoA synthase 2

功能摘要：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].

• U2af1 综合评分: 0.150 · 证据 1 条

该基因暂无关联疾病记录