HMGCL Chromosome 1
3-hydroxy-3-methylglutaryl-CoA lyase
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What This Gene Does
The protein encoded by this gene belongs to the HMG-CoA lyase family. It is a mitochondrial enzyme that catalyzes the final step of leucine degradation and plays a key role in ketone body formation. Mutations in this gene are associated with HMG-CoA lyase deficiency. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
Associated Conditions (5)
Inborn genetic diseases
Deficiency of hydroxymethylglutaryl-CoA lyase
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
HMGCL-related disorder
Ovarian serous cystadenocarcinoma
Key Variants
RS1185120937
Conflicting classifications of pathogenicity
Inborn genetic diseases, Deficiency of hydroxymethylglutaryl-CoA lyase, Inborn genetic diseases
Health Risk
RS1287973337
Conflicting classifications of pathogenicity
Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase
Health Risk
RS146306707
Conflicting classifications of pathogenicity
Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase
Health Risk
RS1488079271
Conflicting classifications of pathogenicity
Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase
Health Risk
RS199587895
Conflicting classifications of pathogenicity
Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase
Health Risk
RS764039230
Conflicting classifications of pathogenicity
Deficiency of hydroxymethylglutaryl-CoA lyase, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Deficiency of hydroxymethylglutaryl-CoA lyase
Health Risk
RS771024022
Conflicting classifications of pathogenicity
Deficiency of hydroxymethylglutaryl-CoA lyase, HMGCL-related disorder, Deficiency of hydroxymethylglutaryl-CoA lyase
Health Risk
RS778868742
Conflicting classifications of pathogenicity
Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase
Health Risk
RS886046312
Conflicting classifications of pathogenicity
Deficiency of hydroxymethylglutaryl-CoA lyase, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Deficiency of hydroxymethylglutaryl-CoA lyase
Health Risk
RS886046313
Conflicting classifications of pathogenicity
Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase
Health Risk
RS911190800
Conflicting classifications of pathogenicity
Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase
Health Risk
RS1001955490
Likely pathogenic
Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase
Health Risk
All Variants (89)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1638575128 | Health Risk | Pathogenic | Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase |
| RS1638575413 | Health Risk | Pathogenic | Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase |
| RS1638698938 | Health Risk | Pathogenic | Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase |
| RS2148417048 | Health Risk | Pathogenic | Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase |
| RS2148419158 | Health Risk | Pathogenic | Deficiency of hydroxymethylglutaryl-CoA lyase, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Deficiency of hydroxymethylglutaryl-CoA lyase |
| RS2148420687 | Health Risk | Pathogenic | Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase |
| RS2148424154 | Health Risk | Pathogenic | Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase |
| RS2148424175 | Health Risk | Pathogenic | Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase |
| RS2148425853 | Health Risk | Pathogenic | Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase |
| RS2521380537 | Health Risk | Pathogenic | Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase |
| RS2521380983 | Health Risk | Pathogenic | Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase |
| RS2521440674 | Health Risk | Pathogenic | Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase |
| RS2521440743 | Health Risk | Pathogenic | Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase |
| RS2521440800 | Health Risk | Pathogenic | Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase |
| RS2521441229 | Health Risk | Pathogenic | Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase |
| RS2521455305 | Health Risk | Pathogenic | Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase |
| RS2521455723 | Health Risk | Pathogenic | Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase |
| RS2521458985 | Health Risk | Pathogenic | Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase |
| RS2521475979 | Health Risk | Pathogenic | Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase |
| RS752137615 | Health Risk | Pathogenic | Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase |
| RS764264834 | Health Risk | Pathogenic | Inborn genetic diseases, Deficiency of hydroxymethylglutaryl-CoA lyase, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency |
| RS774211779 | Health Risk | Pathogenic | Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase |
| RS779802353 | Health Risk | Pathogenic | Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase |
| RS890995574 | Health Risk | Pathogenic | Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase |
| RS1184002840 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase |
| RS1226874636 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase |
| RS1638362423 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase |
| RS1638632303 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase |
| RS200189529 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase |
| RS2148419170 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase |
| RS2521405619 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase |
| RS2521441733 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase |
| RS727503963 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of hydroxymethylglutaryl-CoA lyase, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, HMGCL-related disorder |
| RS760106433 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase |
| RS763494292 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of hydroxymethylglutaryl-CoA lyase, Inborn genetic diseases, Deficiency of hydroxymethylglutaryl-CoA lyase |
| RS765475941 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase |
| RS770225915 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of hydroxymethylglutaryl-CoA lyase, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Deficiency of hydroxymethylglutaryl-CoA lyase |
| RS779339230 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of hydroxymethylglutaryl-CoA lyase, HMGCL-related disorder, Deficiency of hydroxymethylglutaryl-CoA lyase |
| RS786205431 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase |