OXCT1 Chromosome 5
3-oxoacid CoA-transferase 1
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What This Gene Does
This gene encodes a member of the 3-oxoacid CoA-transferase gene family. The encoded protein is a homodimeric mitochondrial matrix enzyme that plays a central role in extrahepatic ketone body catabolism by catalyzing the reversible transfer of coenzyme A from succinyl-CoA to acetoacetate. Mutations in this gene are associated with succinyl CoA:3-oxoacid CoA transferase deficiency. [provided by RefSeq, Jul 2008]
Associated Conditions (2)
Succinyl-CoA acetoacetate transferase deficiency
OXCT1-related disorder
Key Variants
RS140869022
Conflicting classifications of pathogenicity
Succinyl-CoA acetoacetate transferase deficiency, OXCT1-related disorder, Succinyl-CoA acetoacetate transferase deficiency
Health Risk
RS141567487
Conflicting classifications of pathogenicity
Succinyl-CoA acetoacetate transferase deficiency, OXCT1-related disorder, Succinyl-CoA acetoacetate transferase deficiency
Health Risk
RS142383658
Conflicting classifications of pathogenicity
Succinyl-CoA acetoacetate transferase deficiency, OXCT1-related disorder, Succinyl-CoA acetoacetate transferase deficiency
Health Risk
RS144283422
Conflicting classifications of pathogenicity
Succinyl-CoA acetoacetate transferase deficiency, Succinyl-CoA acetoacetate transferase deficiency
Health Risk
RS370659097
Conflicting classifications of pathogenicity
Succinyl-CoA acetoacetate transferase deficiency, Succinyl-CoA acetoacetate transferase deficiency
Health Risk
RS747453069
Conflicting classifications of pathogenicity
Succinyl-CoA acetoacetate transferase deficiency, Succinyl-CoA acetoacetate transferase deficiency
Health Risk
RS886060636
Conflicting classifications of pathogenicity
Succinyl-CoA acetoacetate transferase deficiency, Succinyl-CoA acetoacetate transferase deficiency
Health Risk
RS1327401976
Likely pathogenic
Succinyl-CoA acetoacetate transferase deficiency, Succinyl-CoA acetoacetate transferase deficiency
Health Risk
RS1561081472
Likely pathogenic
Succinyl-CoA acetoacetate transferase deficiency, Succinyl-CoA acetoacetate transferase deficiency
Health Risk
RS1561128268
Likely pathogenic
Succinyl-CoA acetoacetate transferase deficiency, Succinyl-CoA acetoacetate transferase deficiency
Health Risk
RS1579884900
Likely pathogenic
Succinyl-CoA acetoacetate transferase deficiency, Succinyl-CoA acetoacetate transferase deficiency
Health Risk
RS1579903197
Likely pathogenic
Succinyl-CoA acetoacetate transferase deficiency, Succinyl-CoA acetoacetate transferase deficiency
Health Risk
All Variants (27)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS140869022 | Health Risk | Conflicting classifications of pathogenicity | Succinyl-CoA acetoacetate transferase deficiency, OXCT1-related disorder, Succinyl-CoA acetoacetate transferase deficiency |
| RS141567487 | Health Risk | Conflicting classifications of pathogenicity | Succinyl-CoA acetoacetate transferase deficiency, OXCT1-related disorder, Succinyl-CoA acetoacetate transferase deficiency |
| RS142383658 | Health Risk | Conflicting classifications of pathogenicity | Succinyl-CoA acetoacetate transferase deficiency, OXCT1-related disorder, Succinyl-CoA acetoacetate transferase deficiency |
| RS144283422 | Health Risk | Conflicting classifications of pathogenicity | Succinyl-CoA acetoacetate transferase deficiency, Succinyl-CoA acetoacetate transferase deficiency |
| RS370659097 | Health Risk | Conflicting classifications of pathogenicity | Succinyl-CoA acetoacetate transferase deficiency, Succinyl-CoA acetoacetate transferase deficiency |
| RS747453069 | Health Risk | Conflicting classifications of pathogenicity | Succinyl-CoA acetoacetate transferase deficiency, Succinyl-CoA acetoacetate transferase deficiency |
| RS886060636 | Health Risk | Conflicting classifications of pathogenicity | Succinyl-CoA acetoacetate transferase deficiency, Succinyl-CoA acetoacetate transferase deficiency |
| RS1327401976 | Health Risk | Likely pathogenic | Succinyl-CoA acetoacetate transferase deficiency, Succinyl-CoA acetoacetate transferase deficiency |
| RS1561081472 | Health Risk | Likely pathogenic | Succinyl-CoA acetoacetate transferase deficiency, Succinyl-CoA acetoacetate transferase deficiency |
| RS1561128268 | Health Risk | Likely pathogenic | Succinyl-CoA acetoacetate transferase deficiency, Succinyl-CoA acetoacetate transferase deficiency |
| RS1579884900 | Health Risk | Likely pathogenic | Succinyl-CoA acetoacetate transferase deficiency, Succinyl-CoA acetoacetate transferase deficiency |
| RS1579903197 | Health Risk | Likely pathogenic | Succinyl-CoA acetoacetate transferase deficiency, Succinyl-CoA acetoacetate transferase deficiency |
| RS1743668356 | Health Risk | Likely pathogenic | Succinyl-CoA acetoacetate transferase deficiency, Succinyl-CoA acetoacetate transferase deficiency |
| RS202242762 | Health Risk | Likely pathogenic | Succinyl-CoA acetoacetate transferase deficiency, Succinyl-CoA acetoacetate transferase deficiency |
| RS2112440626 | Health Risk | Likely pathogenic | Succinyl-CoA acetoacetate transferase deficiency, Succinyl-CoA acetoacetate transferase deficiency |
| RS2112471375 | Health Risk | Likely pathogenic | Succinyl-CoA acetoacetate transferase deficiency, Succinyl-CoA acetoacetate transferase deficiency |
| RS2478254671 | Health Risk | Likely pathogenic | Succinyl-CoA acetoacetate transferase deficiency, Succinyl-CoA acetoacetate transferase deficiency |
| RS121909299 | Health Risk | Pathogenic | Succinyl-CoA acetoacetate transferase deficiency, Succinyl-CoA acetoacetate transferase deficiency |
| RS121909300 | Health Risk | Pathogenic | Succinyl-CoA acetoacetate transferase deficiency, Succinyl-CoA acetoacetate transferase deficiency |
| RS121909301 | Health Risk | Pathogenic | Succinyl-CoA acetoacetate transferase deficiency, Succinyl-CoA acetoacetate transferase deficiency |
| RS121909302 | Health Risk | Pathogenic | Succinyl-CoA acetoacetate transferase deficiency, Succinyl-CoA acetoacetate transferase deficiency |
| RS2112279054 | Health Risk | Pathogenic | Succinyl-CoA acetoacetate transferase deficiency, Succinyl-CoA acetoacetate transferase deficiency |
| RS2112279505 | Health Risk | Pathogenic | Succinyl-CoA acetoacetate transferase deficiency, Succinyl-CoA acetoacetate transferase deficiency |
| RS2478312896 | Health Risk | Pathogenic | Succinyl-CoA acetoacetate transferase deficiency, Succinyl-CoA acetoacetate transferase deficiency |
| RS369643387 | Health Risk | Pathogenic | Succinyl-CoA acetoacetate transferase deficiency, Succinyl-CoA acetoacetate transferase deficiency |
| RS758813974 | Health Risk | Pathogenic | Succinyl-CoA acetoacetate transferase deficiency, Succinyl-CoA acetoacetate transferase deficiency |
| RS2478601239 | Health Risk | Pathogenic/Likely pathogenic | Succinyl-CoA acetoacetate transferase deficiency, OXCT1-related disorder, Succinyl-CoA acetoacetate transferase deficiency |