HMGCS2 Chromosome 1
3-hydroxy-3-methylglutaryl-CoA synthase 2
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What This Gene Does
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]
Associated Conditions (4)
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
Inborn genetic diseases
HMGCS2-related disorder
Colon adenocarcinoma
Key Variants
RS138739620
Conflicting classifications of pathogenicity
3-hydroxy-3-methylglutaryl-CoA synthase deficiency, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
Health Risk
RS144004292
Conflicting classifications of pathogenicity
3-hydroxy-3-methylglutaryl-CoA synthase deficiency, Inborn genetic diseases, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
Health Risk
RS144744634
Conflicting classifications of pathogenicity
3-hydroxy-3-methylglutaryl-CoA synthase deficiency, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
Health Risk
RS146296049
Conflicting classifications of pathogenicity
3-hydroxy-3-methylglutaryl-CoA synthase deficiency, Inborn genetic diseases, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
Health Risk
RS181428774
Conflicting classifications of pathogenicity
3-hydroxy-3-methylglutaryl-CoA synthase deficiency, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
Health Risk
RS188523700
Conflicting classifications of pathogenicity
3-hydroxy-3-methylglutaryl-CoA synthase deficiency, HMGCS2-related disorder, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
Health Risk
RS200675569
Conflicting classifications of pathogenicity
3-hydroxy-3-methylglutaryl-CoA synthase deficiency, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
Health Risk
RS201735169
Conflicting classifications of pathogenicity
3-hydroxy-3-methylglutaryl-CoA synthase deficiency, HMGCS2-related disorder, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
Health Risk
RS370058829
Conflicting classifications of pathogenicity
3-hydroxy-3-methylglutaryl-CoA synthase deficiency, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
Health Risk
RS756539895
Conflicting classifications of pathogenicity
3-hydroxy-3-methylglutaryl-CoA synthase deficiency, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
Health Risk
RS766097440
Conflicting classifications of pathogenicity
3-hydroxy-3-methylglutaryl-CoA synthase deficiency, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
Health Risk
RS76773981
Conflicting classifications of pathogenicity
3-hydroxy-3-methylglutaryl-CoA synthase deficiency, HMGCS2-related disorder, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
Health Risk
All Variants (59)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS776399237 | Health Risk | Pathogenic | 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency |
| RS779321975 | Health Risk | Pathogenic | 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency |
| RS137852636 | Health Risk | Pathogenic/Likely pathogenic | 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency |
| RS137852638 | Health Risk | Pathogenic/Likely pathogenic | 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency |
| RS137852639 | Health Risk | Pathogenic/Likely pathogenic | 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency |
| RS145838142 | Health Risk | Pathogenic/Likely pathogenic | 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency |
| RS1553241079 | Health Risk | Pathogenic/Likely pathogenic | 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency |
| RS1652807016 | Health Risk | Pathogenic/Likely pathogenic | 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency |
| RS372079931 | Health Risk | Pathogenic/Likely pathogenic | 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency |