ACADS Chromosome 12
Acyl-CoA dehydrogenase short chain
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What This Gene Does
This gene encodes a tetrameric mitochondrial flavoprotein, which is a member of the acyl-CoA dehydrogenase family. This enzyme catalyzes the initial step of the mitochondrial fatty acid beta-oxidation pathway. Mutations in this gene have been associated with short-chain acyl-CoA dehydrogenase (SCAD) deficiency. Alternative splicing results in two variants which encode different isoforms. [provided by RefSeq, Oct 2014]
Gene Info
Gene Group
"Acyl-CoA dehydrogenase family|Flavoproteins"
Locus Type
gene with protein product
Location
12q24.31
Ensembl
ENSG00000122971
Associated Conditions (9)
Deficiency of butyryl-CoA dehydrogenase
ACADS-related disorder
Inborn genetic diseases
See cases
Type 2 diabetes mellitus
Colon adenocarcinoma
Familial cancer of breast
Lung cancer
Hepatocellular carcinoma
Key Variants
RS117356004
Conflicting classifications of pathogenicity
Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase
Health Risk
RS1267288663
Conflicting classifications of pathogenicity
Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase
Health Risk
RS1346829948
Conflicting classifications of pathogenicity
Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase
Health Risk
RS141492002
Conflicting classifications of pathogenicity
Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase
Health Risk
RS144083614
Conflicting classifications of pathogenicity
Deficiency of butyryl-CoA dehydrogenase, ACADS-related disorder, Deficiency of butyryl-CoA dehydrogenase
Health Risk
RS149107232
Conflicting classifications of pathogenicity
Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase
Health Risk
RS17848085
Conflicting classifications of pathogenicity
Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase
Health Risk
RS17848089
Conflicting classifications of pathogenicity
Deficiency of butyryl-CoA dehydrogenase, ACADS-related disorder, Deficiency of butyryl-CoA dehydrogenase
Health Risk
RS183161718
Conflicting classifications of pathogenicity
Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase
Health Risk
RS1883486863
Conflicting classifications of pathogenicity
Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase
Health Risk
RS200165866
Conflicting classifications of pathogenicity
Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase
Health Risk
RS200652158
Conflicting classifications of pathogenicity
Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase
Health Risk
All Variants (121)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1291226969 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase |
| RS1317080057 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase |
| RS140853839 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of butyryl-CoA dehydrogenase, See cases, Inborn genetic diseases |
| RS1433582057 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase |
| RS147442301 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase |
| RS1555244280 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase |
| RS199633532 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase |
| RS28940872 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase |
| RS28940875 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase |
| RS28941773 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase |
| RS368469075 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase |
| RS374726386 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase |
| RS387906950 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of butyryl-CoA dehydrogenase, ACADS-related disorder, Deficiency of butyryl-CoA dehydrogenase |
| RS539219309 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase |
| RS57443665 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of butyryl-CoA dehydrogenase, Inborn genetic diseases, ACADS-related disorder |
| RS745833347 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase |
| RS752978753 | Health Risk | Pathogenic/Likely pathogenic | Hepatocellular carcinoma, Deficiency of butyryl-CoA dehydrogenase, Hepatocellular carcinoma |
| RS767774362 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase |
| RS796051906 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of butyryl-CoA dehydrogenase, ACADS-related disorder, Deficiency of butyryl-CoA dehydrogenase |
| RS932525260 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase |
| RS990322697 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase |