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 |
|---|---|---|---|
| RS121908004 | Health Risk | Likely pathogenic | Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase |
| RS1226857910 | Health Risk | Likely pathogenic | Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase |
| RS1359518284 | Health Risk | Likely pathogenic | — |
| RS1452314438 | Health Risk | Likely pathogenic | Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase |
| RS1555244366 | Health Risk | Likely pathogenic | Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase |
| RS1555244367 | Health Risk | Likely pathogenic | Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase |
| RS1883465444 | Health Risk | Likely pathogenic | Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase |
| RS1883493225 | Health Risk | Likely pathogenic | Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase |
| RS2501155182 | Health Risk | Likely pathogenic | Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase |
| RS2501155651 | Health Risk | Likely pathogenic | Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase |
| RS2501156065 | Health Risk | Likely pathogenic | ACADS-related disorder, ACADS-related disorder |
| RS2501187551 | Health Risk | Likely pathogenic | Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase |
| RS2501191093 | Health Risk | Likely pathogenic | Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase |
| RS2501193882 | Health Risk | Likely pathogenic | Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase |
| RS2501194385 | Health Risk | Likely pathogenic | Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase |
| RS2501196429 | Health Risk | Likely pathogenic | Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase |
| RS2501198105 | Health Risk | Likely pathogenic | Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase |
| RS2501198442 | Health Risk | Likely pathogenic | Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase |
| RS2501202715 | Health Risk | Likely pathogenic | Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase |
| RS368064268 | Health Risk | Likely pathogenic | Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase |
| RS753758429 | Health Risk | Likely pathogenic | — |
| RS755247580 | Health Risk | Likely pathogenic | Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase |
| RS758012734 | Health Risk | Likely pathogenic | Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase |
| RS765758808 | Health Risk | Likely pathogenic | Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase |
| RS766579880 | Health Risk | Likely pathogenic | Deficiency of butyryl-CoA dehydrogenase, ACADS-related disorder, Deficiency of butyryl-CoA dehydrogenase |
| RS767155955 | Health Risk | Likely pathogenic | — |
| RS770646738 | Health Risk | Likely pathogenic | Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase |
| RS951773023 | Health Risk | Likely pathogenic | ACADS-related disorder, ACADS-related disorder |
| RS1057516421 | Health Risk | Pathogenic | Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase |
| RS1057516848 | Health Risk | Pathogenic | Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase |
| RS1064793612 | Health Risk | Pathogenic | — |
| RS1064795254 | Health Risk | Pathogenic | — |
| RS1233243754 | Health Risk | Pathogenic | Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase |
| RS1318266542 | Health Risk | Pathogenic | ACADS-related disorder, ACADS-related disorder |
| RS1482609511 | Health Risk | Pathogenic | Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase |
| RS1883065804 | Health Risk | Pathogenic | Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase |
| RS2136950036 | Health Risk | Pathogenic | Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase |
| RS2501155398 | Health Risk | Pathogenic | Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase |
| RS2501198539 | Health Risk | Pathogenic | Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase |
| RS2501201951 | Health Risk | Pathogenic | Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase |
| RS387906308 | Health Risk | Pathogenic | Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase |
| RS541587321 | Health Risk | Pathogenic | Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase |
| RS61732144 | Health Risk | Pathogenic | Deficiency of butyryl-CoA dehydrogenase, Inborn genetic diseases, Deficiency of butyryl-CoA dehydrogenase |
| RS749491616 | Health Risk | Pathogenic | Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase |
| RS752677472 | Health Risk | Pathogenic | Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase |
| RS786204691 | Health Risk | Pathogenic | Deficiency of butyryl-CoA dehydrogenase, ACADS-related disorder, Deficiency of butyryl-CoA dehydrogenase |
| RS1057516606 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase |
| RS1057516733 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase |
| RS121908003 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of butyryl-CoA dehydrogenase, ACADS-related disorder, Inborn genetic diseases |
| RS121908006 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase |