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 .
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, mitochondrialAlternative name(s):
HMG-CoA synthase3-hydroxy-3-methylglutaryl coenzyme A synthase
Top Gene-Substance Interactions
HMGCS2 Interacts with These Diseases
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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 |
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Conditions with Decreased Gene Activity
| Condition | Change (log2fold) | Comparison | Species | Experimental variables | Experiment name |
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Technical
The following transcription factors affect gene expression:
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:
Molecular Function:
Biological Processes:
- Kidney Development
- Liver Development
- Cholesterol Biosynthetic Process
- Brain Development
- Midgut Development
- Response To Nutrient
- Isoprenoid Biosynthetic Process
- Response To Temperature Stimulus
- Response To Metal Ion
- Lung Development
- Cellular Response To Insulin Stimulus
- Multicellular Organismal Response To Stress
- Response To Testosterone
- Response To Glucagon
- Response To Triglyceride
- Response To Monosaccharide
- Response To Prostaglandin F
- Response To Starvation
- Response To Ethanol
- Ketone Body Biosynthetic Process
- Response To Camp
- Response To Growth Hormone
- Adipose Tissue Development
- Response To Linoleic Acid
- Cellular Response To Lipopolysaccharide
- Cellular Response To Amino Acid Stimulus
- Cellular Response To Glucocorticoid Stimulus
- Cellular Response To Fatty Acid