NP_001159579.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
56,635 Da
NCBI Official Full Name
hydroxymethylglutaryl-CoA synthase, mitochondrial isoform 2
NCBI Official Synonym Full Names
3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)
NCBI Protein Information
hydroxymethylglutaryl-CoA synthase, mitochondrial; HMG-CoA synthase; 3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2 (mitochondrial)
UniProt Protein Name
Hydroxymethylglutaryl-CoA synthase, mitochondrial
UniProt Synonym Protein Names
3-hydroxy-3-methylglutaryl coenzyme A synthase
UniProt Synonym Gene Names
UniProt Entry Name
HMCS2_HUMAN
NCBI Summary for HMGCS2
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]
UniProt Comments for HMGCS2
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; EC 2.3.3.10; Lipid Metabolism - synthesis and degradation of ketone bodies; Carbohydrate Metabolism - butanoate; Amino Acid Metabolism - valine, leucine and isoleucine degradation; Transferase; Secondary Metabolites Metabolism - terpenoid backbone biosynthesis
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
Research Articles on HMGCS2
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Pathways associated with HMGCS2 elisa kit
Diseases associated with HMGCS2 elisa kit
Organs/Tissues associated with HMGCS2 elisa kit
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