QuickView for HMGCS2 (gene)

Gene Symbol:

HMGCS2 Homo sapiens

Full name:

3-hydroxy-3-methylglutaryl-CoA synthase 2

Synonyms:

hydroxymethylglutaryl-CoA synthase, mitochondrial, 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial), 3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2 (mitochondrial), HMG-CoA synthase, testicular tissue protein Li 88

Genomic Location:

Chr 1: 120092525-120113041

Description:

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 defic...

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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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  C. elegans ,  Macaca mulatta ,  Gallus gallus ,  Pan troglodytes ,  Bos taurus ,  Canis lupus familiaris

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

PPARA_01 ,  TATAAA_TATA_01 ,  DR1_Q3 ,  COUP_DR1_Q6 ,  PPAR_DR1_Q2

Cytogenetic Map:

1p12

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