HMGCS2 | SelfDecode | Genome Analysis

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

Category:

Substances	Interaction	Organism	Category

Substances That Decrease HMGCS2

Category:

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

Experimental Variables:

Condition	Change (log₂fold)	Comparison	Species	Experimental variables	Experiment name

Conditions with Decreased Gene Activity

Experimental Variables:

Condition	Change (log₂fold)	Comparison	Species	Experimental variables	Experiment name

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:

Hydroxymethylglutaryl-Coa Synthase Activity

Biological Processes:

*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

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

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