HMGCS2 gene

3-hydroxy-3-methylglutaryl-CoA synthase 2

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

This enzyme condenses acetyl-CoA with acetoacetyl-CoA to form HMG-CoA, which is the substrate for HMG-CoA reductase.

From NCBI Gene:

  • mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency

From UniProt:

3-hydroxy-3-methylglutaryl-CoA synthase-2 deficiency (HMGCS2D): A metabolic disorder characterized by severe hypoketotic hypoglycemia, encephalopathy, and hepatomegaly. [MIM:605911]

Cytogenetic Location: 1p12, which is the short (p) arm of chromosome 1 at position 12

Molecular Location: base pairs 119,747,996 to 119,769,125 on chromosome 1 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 1p12, which is the short (p) arm of chromosome 1 at position 12