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 |
|---|---|---|---|
| RS138739620 | Health Risk | Conflicting classifications of pathogenicity | 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency |
| RS144004292 | Health Risk | Conflicting classifications of pathogenicity | 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, Inborn genetic diseases, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency |
| RS144744634 | Health Risk | Conflicting classifications of pathogenicity | 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency |
| RS146296049 | Health Risk | Conflicting classifications of pathogenicity | 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, Inborn genetic diseases, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency |
| RS181428774 | Health Risk | Conflicting classifications of pathogenicity | 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency |
| RS188523700 | Health Risk | Conflicting classifications of pathogenicity | 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, HMGCS2-related disorder, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency |
| RS200675569 | Health Risk | Conflicting classifications of pathogenicity | 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency |
| RS201735169 | Health Risk | Conflicting classifications of pathogenicity | 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, HMGCS2-related disorder, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency |
| RS370058829 | Health Risk | Conflicting classifications of pathogenicity | 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency |
| RS756539895 | Health Risk | Conflicting classifications of pathogenicity | 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency |
| RS766097440 | Health Risk | Conflicting classifications of pathogenicity | 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency |
| RS76773981 | Health Risk | Conflicting classifications of pathogenicity | 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, HMGCS2-related disorder, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency |
| RS768707273 | Health Risk | Conflicting classifications of pathogenicity | 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency |
| RS773364048 | Health Risk | Conflicting classifications of pathogenicity | 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency |
| RS773806829 | Health Risk | Conflicting classifications of pathogenicity | 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency |
| RS886045207 | Health Risk | Conflicting classifications of pathogenicity | 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency |
| RS1406920400 | Health Risk | Likely pathogenic | 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency |
| RS1454719802 | Health Risk | Likely pathogenic | 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency |
| RS1571033506 | Health Risk | Likely pathogenic | 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency |
| RS1652875135 | Health Risk | Likely pathogenic | 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency |
| RS1653132966 | Health Risk | Likely pathogenic | 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency |
| RS2101248147 | Health Risk | Likely pathogenic | 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency |
| RS2101273359 | Health Risk | Likely pathogenic | 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency |
| RS2464283434 | Health Risk | Likely pathogenic | 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency |
| RS28937320 | Health Risk | Likely pathogenic | 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency |
| RS587688416 | Health Risk | Likely pathogenic | 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency |
| RS762211049 | Health Risk | Likely pathogenic | 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency |
| RS764706394 | Health Risk | Likely pathogenic | 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency |
| RS796051979 | Health Risk | Likely pathogenic | 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency |
| RS111313628 | Health Risk | Pathogenic | 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency |
| RS137852637 | Health Risk | Pathogenic | 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, HMGCS2-related disorder, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency |
| RS137852640 | Health Risk | Pathogenic | 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency |
| RS142637231 | Health Risk | Pathogenic | 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency |
| RS1553240165 | Health Risk | Pathogenic | 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency |
| RS1553240525 | Health Risk | Pathogenic | 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency |
| RS1571037298 | Health Risk | Pathogenic | 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency |
| RS1652885850 | Health Risk | Pathogenic | 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency |
| RS1652955748 | Health Risk | Pathogenic | 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency |
| RS1653324348 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2101254797 | Health Risk | Pathogenic | 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency |
| RS2101262353 | Health Risk | Pathogenic | 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency |
| RS2101283564 | Health Risk | Pathogenic | 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency |
| RS2101283660 | Health Risk | Pathogenic | 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency |
| RS2464242372 | Health Risk | Pathogenic | 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency |
| RS587603096 | Health Risk | Pathogenic | 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, Colon adenocarcinoma, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency |
| RS587727388 | Health Risk | Pathogenic | 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency |
| RS751009381 | Health Risk | Pathogenic | 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency |
| RS752626288 | Health Risk | Pathogenic | 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency |
| RS763531478 | Health Risk | Pathogenic | 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency |
| RS771607178 | Health Risk | Pathogenic | 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency |