ACAD9 Chromosome 3
Acyl-CoA dehydrogenase family member 9
Upload your DNA to see your personal genotypes for variants in ACAD9.
What This Gene Does
This gene encodes a member of the acyl-CoA dehydrogenase family. Members of this family of proteins localize to the mitochondria and catalyze the rate-limiting step in the beta-oxidation of fatty acyl-CoA. The encoded protein is specifically active toward palmitoyl-CoA and long-chain unsaturated substrates. Mutations in this gene cause acyl-CoA dehydrogenase family member type 9 deficiency. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Mar 2010]
Gene Info
Gene Group
"Acyl-CoA dehydrogenase family|Mitochondrial complex I assembly complex|Flavoproteins"
Locus Type
gene with protein product
Location
3q21.3
Ensembl
ENSG00000177646
Associated Conditions (6)
Acyl-CoA dehydrogenase 9 deficiency
Inborn genetic diseases
ACAD9-related disorder
See cases
Mitochondrial complex I deficiency
Possible mitochondrial disorder - nuclear genes
Key Variants
RS1018093316
Conflicting classifications of pathogenicity
Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency
Health Risk
RS1057523761
Conflicting classifications of pathogenicity
Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency
Health Risk
RS1203559610
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1247540257
Conflicting classifications of pathogenicity
Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency
Health Risk
RS138264216
Conflicting classifications of pathogenicity
Acyl-CoA dehydrogenase 9 deficiency, Inborn genetic diseases, Acyl-CoA dehydrogenase 9 deficiency
Health Risk
RS1389811503
Conflicting classifications of pathogenicity
Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency
Health Risk
RS139048558
Conflicting classifications of pathogenicity
Acyl-CoA dehydrogenase 9 deficiency, ACAD9-related disorder, Acyl-CoA dehydrogenase 9 deficiency
Health Risk
RS139073821
Conflicting classifications of pathogenicity
Acyl-CoA dehydrogenase 9 deficiency, ACAD9-related disorder, Acyl-CoA dehydrogenase 9 deficiency
Health Risk
RS139145143
Conflicting classifications of pathogenicity
Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency
Health Risk
RS139352788
Conflicting classifications of pathogenicity
Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency
Health Risk
RS141036010
Conflicting classifications of pathogenicity
Acyl-CoA dehydrogenase 9 deficiency, See cases, Inborn genetic diseases
Health Risk
RS141874052
Conflicting classifications of pathogenicity
Acyl-CoA dehydrogenase 9 deficiency, ACAD9-related disorder, Acyl-CoA dehydrogenase 9 deficiency
Health Risk
All Variants (199)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2529279176 | Health Risk | Likely pathogenic | Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS2529279372 | Health Risk | Likely pathogenic | Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS2529279380 | Health Risk | Likely pathogenic | Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS2529280134 | Health Risk | Likely pathogenic | Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS2529280379 | Health Risk | Likely pathogenic | — |
| RS2529283339 | Health Risk | Likely pathogenic | — |
| RS2529283676 | Health Risk | Likely pathogenic | — |
| RS2529283911 | Health Risk | Likely pathogenic | — |
| RS2529287334 | Health Risk | Likely pathogenic | Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS370655569 | Health Risk | Likely pathogenic | Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS745759890 | Health Risk | Likely pathogenic | — |
| RS750089899 | Health Risk | Likely pathogenic | Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS752571732 | Health Risk | Likely pathogenic | Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS752971553 | Health Risk | Likely pathogenic | Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS754311198 | Health Risk | Likely pathogenic | Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS759464364 | Health Risk | Likely pathogenic | Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS761102100 | Health Risk | Likely pathogenic | Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS766026673 | Health Risk | Likely pathogenic | Acyl-CoA dehydrogenase 9 deficiency, Mitochondrial complex I deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS766305690 | Health Risk | Likely pathogenic | Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS769704279 | Health Risk | Likely pathogenic | — |
| RS770127110 | Health Risk | Likely pathogenic | Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS779640853 | Health Risk | Likely pathogenic | Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS780654152 | Health Risk | Likely pathogenic | Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS863225058 | Health Risk | Likely pathogenic | — |
| RS928866725 | Health Risk | Likely pathogenic | Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS1057518752 | Health Risk | Pathogenic | Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS1243971835 | Health Risk | Pathogenic | — |
| RS1385531173 | Health Risk | Pathogenic | — |
| RS1461373436 | Health Risk | Pathogenic | — |
| RS1483187894 | Health Risk | Pathogenic | — |
| RS1488118393 | Health Risk | Pathogenic | — |
| RS1559828042 | Health Risk | Pathogenic | — |
| RS1559832410 | Health Risk | Pathogenic | — |
| RS1576344664 | Health Risk | Pathogenic | Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS1576347955 | Health Risk | Pathogenic | Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS1936038822 | Health Risk | Pathogenic | — |
| RS2107636803 | Health Risk | Pathogenic | — |
| RS2107648722 | Health Risk | Pathogenic | — |
| RS2107651297 | Health Risk | Pathogenic | — |
| RS2107659507 | Health Risk | Pathogenic | — |
| RS2107659593 | Health Risk | Pathogenic | — |
| RS2529107216 | Health Risk | Pathogenic | — |
| RS2529221556 | Health Risk | Pathogenic | — |
| RS2529221609 | Health Risk | Pathogenic | — |
| RS2529221699 | Health Risk | Pathogenic | — |
| RS2529255346 | Health Risk | Pathogenic | — |
| RS2529257814 | Health Risk | Pathogenic | — |
| RS2529261945 | Health Risk | Pathogenic | — |
| RS2529262095 | Health Risk | Pathogenic | Mitochondrial complex I deficiency, Mitochondrial complex I deficiency |
| RS2529266748 | Health Risk | Pathogenic | — |