Recombinant Human Hydroxymethylglutaryl-CoA synthase, mitochondrial (HMGCS2)

Uniprot Id

P54868

Target Species

Human

Target Name

HMGCS2

Target Full Name

Hydroxymethylglutaryl-CoA synthase, mitochondrial

Target Function

Catalyzes the first irreversible step in ketogenesis, condensing acetyl-CoA to acetoacetyl-CoA to form HMG-CoA, which is converted by HMG-CoA reductase (HMGCR) into mevalonate.

Target Involvement

3-hydroxy-3-methylglutaryl-CoA synthase-2 deficiency (HMGCS2D)

Target Subcellular Location

Mitochondrion.

Target Protein Families

HMG-CoA synthase family

Target Tissue Specificity

Expression in liver is 200-fold higher than in any other tissue. Low expression in colon, kidney, testis, and pancreas. Very low expression in heart and skeletal muscle. Not detected in brain.; [Isoform 3]: Highest expression detected in heart and skeleta

Target Synonyms

3 hydroxy 3 methylglutaryl Coenzyme A synthase 2 (mitochondrial); 3 hydroxy 3 methylglutaryl Coenzyme A synthase 2; 3 hydroxy 3 methylglutaryl coenzyme A synthase; 3-hydroxy-3-methylglutaryl coenzyme A synthase; HMCS2_HUMAN; HMG CoA synthase; HMG-CoA synthase; HMGCS 2; HMGCS2; Hydroxymethylglutaryl CoA synthase; Hydroxymethylglutaryl CoA synthase mitochondrial ; Hydroxymethylglutaryl-CoA synthase; mitochondrial

Target Background

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.