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 |
|---|---|---|---|
| RS117356004 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase |
| RS1267288663 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase |
| RS1346829948 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase |
| RS141492002 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase |
| RS144083614 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of butyryl-CoA dehydrogenase, ACADS-related disorder, Deficiency of butyryl-CoA dehydrogenase |
| RS149107232 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase |
| RS17848085 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase |
| RS17848089 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of butyryl-CoA dehydrogenase, ACADS-related disorder, Deficiency of butyryl-CoA dehydrogenase |
| RS183161718 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase |
| RS1883486863 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase |
| RS200165866 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase |
| RS200652158 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase |
| RS202078273 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase |
| RS202124189 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of butyryl-CoA dehydrogenase, Inborn genetic diseases, Deficiency of butyryl-CoA dehydrogenase |
| RS202193021 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of butyryl-CoA dehydrogenase, ACADS-related disorder, Deficiency of butyryl-CoA dehydrogenase |
| RS28940874 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase |
| RS35233375 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of butyryl-CoA dehydrogenase, See cases, Deficiency of butyryl-CoA dehydrogenase |
| RS369167716 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase |
| RS370478896 | Health Risk | Conflicting classifications of pathogenicity | See cases, Deficiency of butyryl-CoA dehydrogenase, See cases |
| RS371550264 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase |
| RS377069922 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase |
| RS387906951 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase |
| RS531683812 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase |
| RS537072819 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase |
| RS566325901 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of butyryl-CoA dehydrogenase, Type 2 diabetes mellitus, Deficiency of butyryl-CoA dehydrogenase |
| RS746368198 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase |
| RS750941135 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase |
| RS751023929 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of butyryl-CoA dehydrogenase, ACADS-related disorder, Deficiency of butyryl-CoA dehydrogenase |
| RS751507296 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase |
| RS763162492 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of butyryl-CoA dehydrogenase, ACADS-related disorder, Deficiency of butyryl-CoA dehydrogenase |
| RS763811046 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase |
| RS766183395 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase |
| RS770009021 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase |
| RS774815274 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase |
| RS777002501 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase |
| RS780571371 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase |
| RS796051902 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase |
| RS796051905 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase |
| RS926187308 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase |
| RS1001298373 | Health Risk | Likely pathogenic | — |
| RS1018117461 | Health Risk | Likely pathogenic | Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase |
| RS1057516231 | Health Risk | Likely pathogenic | Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase |
| RS1057516385 | Health Risk | Likely pathogenic | Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase |
| RS1057516436 | Health Risk | Likely pathogenic | Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase |
| RS1057516566 | Health Risk | Likely pathogenic | Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase |
| RS1057516639 | Health Risk | Likely pathogenic | Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase |
| RS1057516685 | Health Risk | Likely pathogenic | Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase |
| RS1057516967 | Health Risk | Likely pathogenic | Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase |
| RS1057517155 | Health Risk | Likely pathogenic | Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase |
| RS1212720647 | Health Risk | Likely pathogenic | Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase |