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  3. HMGCS2

HMGCS2 (3-hydroxy-3-methylglutaryl-CoA synthase 2)

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Summary of HMGCS2

This gene produces a mitochondrial enzyme that catalyzes the first reaction of ketogenesis, a metabolic pathway that provides fat-derived energy for various organs during times of carbohydrate deprivation, such as fasting .

 

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The Function of HMGCS2

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

Protein names

Recommended name:

Hydroxymethylglutaryl-CoA synthase, mitochondrial

Alternative name(s):

HMG-CoA synthase
3-hydroxy-3-methylglutaryl coenzyme A synthase

Top Gene-Substance Interactions

HMGCS2 Interacts with These Diseases

Disease Score

Substances That Increase HMGCS2

Substances Interaction Organism Category

Substances That Decrease HMGCS2

Substances Interaction Organism Category

Advanced Summary

3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) is an enzyme in humans that is encoded by the HMGCS2 gene.

The protein encoded by this gene belongs to the HMG-CoA synthase family.

Mutations in this gene are associated with HMG-CoA synthase deficiency.

Conditions with Increased Gene Activity

Condition Change (log2fold) Comparison Species Experimental variables Experiment name

Conditions with Decreased Gene Activity

Condition Change (log2fold) Comparison Species Experimental variables Experiment name

Technical

The following transcription factors affect gene expression:

  • NF-kappaB
  • PPAR-gamma1
  • CUTL1
  • PPAR-gamma2
  • RORalpha2
  • NF-kappaB1
  • PPAR-alpha

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. The relative expression of isoform 3 (at mRNA level) is highest in heart (70%) and skeletal muscle (60%).

Gene Pathways:

  • Metabolic pathways
  • Metabolism
  • Butanoate metabolism
  • Valine, leucine and isoleucine degradation
  • Synthesis and degradation of ketone bodies
  • PPAR signaling pathway
  • Terpenoid backbone biosynthesis

Molecular Function:

  • Hydroxymethylglutaryl-Coa Synthase Activity

Biological Processes:

  • Cholesterol Biosynthetic Process
  • Isoprenoid Biosynthetic Process
  • Ketone Body Biosynthetic Process
  • Adipose Tissue Development
  • Brain Development
  • Cellular Response To Amino Acid Stimulus
  • Cellular Response To Fatty Acid
  • Cellular Response To Glucocorticoid Stimulus
  • Cellular Response To Insulin Stimulus
  • Cellular Response To Lipopolysaccharide
  • Kidney Development
  • Liver Development
  • Lung Development
  • Midgut Development
  • Multicellular Organismal Response To Stress
  • Response To Camp
  • Response To Ethanol
  • Response To Glucagon
  • Response To Growth Hormone
  • Response To Linoleic Acid
  • Response To Metal Ion
  • Response To Monosaccharide
  • Response To Nutrient
  • Response To Prostaglandin F
  • Response To Starvation
  • Response To Temperature Stimulus
  • Response To Testosterone
  • Response To Triglyceride
*synonyms

Synonyms/Aliases/Alternative Names of the Gene:

hypothetical protein| 1300002P16| 3-hydroxy-3-methylglutary-Coenzyme A synthase 2| 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)| 3-hydroxy-3-methylglutaryl coenzyme A synthase| 3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2| 3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2 (mitochondrial)| AS27_15770| AS28_09910| EGK_01163| GW7_10424| hmgCoA| HMG-CoA synthase| Hmgcs1| Hydroxymethylglutaryl-CoA synthase| hydroxymethylglutaryl-CoA synthase 2| Hydroxymethylglutaryl-CoA synthase, cytoplasmic| Hydroxymethylglutaryl-CoA synthase, mitochondrial| M959_05829| MDA_GLEAN10024849| mHS| Mt3h3mg| N300_02713| N302_00536| N303_11562| N305_12093| N306_01418| N307_15486| N331_05551| N333_02448| PANDA_018381| testicular tissue protein Li 88| TREES_T100022026| UY3_08389| Y1Q_029565| Y956_03469| hmgcs2

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