HMGCS2 Antibodies

Target Information

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.

Synonyms

3-hydroxy-3-methylglutary-Coenzyme A synthase 2; 3-hydroxy-3-methylglutaryl coenzyme A synthase; 3-hydroxy-3-methylglutaryl-CoA synthase 2; 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial); 3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2 (mitochondrial); HMG-CoA synthase; Hmgcs1; HMGCS2; hydroxymethylglutaryl-CoA synthase 2; hydroxymethylglutaryl-CoA synthase, mitochondrial; Mt3h3mg; testicular tissue protein Li 88