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 |
|---|---|---|---|
| RS2529266752 | Health Risk | Pathogenic | — |
| RS2529270114 | Health Risk | Pathogenic | — |
| RS2529272954 | Health Risk | Pathogenic | Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS2529273160 | Health Risk | Pathogenic | — |
| RS2529279291 | Health Risk | Pathogenic | — |
| RS2529279370 | Health Risk | Pathogenic | — |
| RS2529279381 | Health Risk | Pathogenic | — |
| RS2529287706 | Health Risk | Pathogenic | — |
| RS387907041 | Health Risk | Pathogenic | Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS551295909 | Health Risk | Pathogenic | — |
| RS752416907 | Health Risk | Pathogenic | — |
| RS762859894 | Health Risk | Pathogenic | — |
| RS773586510 | Health Risk | Pathogenic | Inborn genetic diseases, Acyl-CoA dehydrogenase 9 deficiency, Inborn genetic diseases |
| RS773949927 | Health Risk | Pathogenic | Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS863225059 | Health Risk | Pathogenic | — |
| RS936842682 | Health Risk | Pathogenic | — |
| RS996004696 | Health Risk | Pathogenic | Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS115532916 | Health Risk | Pathogenic/Likely pathogenic | Acyl-CoA dehydrogenase 9 deficiency, Mitochondrial complex I deficiency, Possible mitochondrial disorder - nuclear genes |
| RS1256178504 | Health Risk | Pathogenic/Likely pathogenic | Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS1314818291 | Health Risk | Pathogenic/Likely pathogenic | Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS148694290 | Health Risk | Pathogenic/Likely pathogenic | Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS149753643 | Health Risk | Pathogenic/Likely pathogenic | Acyl-CoA dehydrogenase 9 deficiency, Mitochondrial complex I deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS150283105 | Health Risk | Pathogenic/Likely pathogenic | Acyl-CoA dehydrogenase 9 deficiency, Mitochondrial complex I deficiency, ACAD9-related disorder |
| RS1935194749 | Health Risk | Pathogenic/Likely pathogenic | Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS1936041020 | Health Risk | Pathogenic/Likely pathogenic | Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS2107648799 | Health Risk | Pathogenic/Likely pathogenic | Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS2107651275 | Health Risk | Pathogenic/Likely pathogenic | Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS2107655510 | Health Risk | Pathogenic/Likely pathogenic | Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS2107656502 | Health Risk | Pathogenic/Likely pathogenic | Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS2107657717 | Health Risk | Pathogenic/Likely pathogenic | Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS2107657797 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial complex I deficiency, Mitochondrial complex I deficiency |
| RS2107661371 | Health Risk | Pathogenic/Likely pathogenic | Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS2529107343 | Health Risk | Pathogenic/Likely pathogenic | Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS2529278964 | Health Risk | Pathogenic/Likely pathogenic | Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS2529283141 | Health Risk | Pathogenic/Likely pathogenic | Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS2529287811 | Health Risk | Pathogenic/Likely pathogenic | Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS368949613 | Health Risk | Pathogenic/Likely pathogenic | Acyl-CoA dehydrogenase 9 deficiency, Mitochondrial complex I deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS377022708 | Health Risk | Pathogenic/Likely pathogenic | Acyl-CoA dehydrogenase 9 deficiency, Mitochondrial complex I deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS387907042 | Health Risk | Pathogenic/Likely pathogenic | Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS746312225 | Health Risk | Pathogenic/Likely pathogenic | Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS753711253 | Health Risk | Pathogenic/Likely pathogenic | Acyl-CoA dehydrogenase 9 deficiency, Mitochondrial complex I deficiency, ACAD9-related disorder |
| RS763004980 | Health Risk | Pathogenic/Likely pathogenic | Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS765060373 | Health Risk | Pathogenic/Likely pathogenic | Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS777282696 | Health Risk | Pathogenic/Likely pathogenic | Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency, Mitochondrial complex I deficiency |
| RS778786636 | Health Risk | Pathogenic/Likely pathogenic | Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS781043714 | Health Risk | Pathogenic/Likely pathogenic | Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS781149699 | Health Risk | Pathogenic/Likely pathogenic | Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS863224844 | Health Risk | Pathogenic/Likely pathogenic | Acyl-CoA dehydrogenase 9 deficiency, Mitochondrial complex I deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS866688232 | Health Risk | Pathogenic/Likely pathogenic | Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |