HMGCS2 Antibody – Rabbit Polyclonal

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]

HMGCS2: This enzyme condenses acetyl-CoA with acetoacetyl-CoA to form HMG-CoA, which is the substrate for HMG-CoA reductase. Defects in HMGCS2 are the cause of HMG-CoA synthase deficiency (HMGCS deficiency); also known as deficiency of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase 2. Affected individuals present with severe hypoketotic hypoglycemia, mild hepatomegaly, or fatty liver, and a nondiagnostic pattern of urinary organic acids with increase of medium and short chain dicarboxylic acids. Belongs to the HMG-CoA synthase family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Mitochondrial; Carbohydrate Metabolism - butanoate; Transferase; Secondary Metabolites Metabolism - terpenoid backbone biosynthesis; Lipid Metabolism - synthesis and degradation of ketone bodies; Amino Acid Metabolism - valine, leucine and isoleucine degradation; EC 2.3.3.10

Chromosomal Location of Human Ortholog: 1p13-p12

Cellular Component: mitochondrion; mitochondrial matrix; mitochondrial inner membrane

Molecular Function: hydroxymethylglutaryl-CoA synthase activity

Biological Process: isoprenoid biosynthetic process; ketone body biosynthetic process; ketone body metabolic process; cellular lipid metabolic process; cholesterol biosynthetic process

Disease: 3-hydroxy-3-methylglutaryl-coa Synthase 2 Deficiency