ACAD9 Chromosome 3
Acyl-CoA dehydrogenase family member 9
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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 |
|---|---|---|---|
| RS1018093316 | Health Risk | Conflicting classifications of pathogenicity | Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS1057523761 | Health Risk | Conflicting classifications of pathogenicity | Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS1203559610 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1247540257 | Health Risk | Conflicting classifications of pathogenicity | Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS138264216 | Health Risk | Conflicting classifications of pathogenicity | Acyl-CoA dehydrogenase 9 deficiency, Inborn genetic diseases, Acyl-CoA dehydrogenase 9 deficiency |
| RS1389811503 | Health Risk | Conflicting classifications of pathogenicity | Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS139048558 | Health Risk | Conflicting classifications of pathogenicity | Acyl-CoA dehydrogenase 9 deficiency, ACAD9-related disorder, Acyl-CoA dehydrogenase 9 deficiency |
| RS139073821 | Health Risk | Conflicting classifications of pathogenicity | Acyl-CoA dehydrogenase 9 deficiency, ACAD9-related disorder, Acyl-CoA dehydrogenase 9 deficiency |
| RS139145143 | Health Risk | Conflicting classifications of pathogenicity | Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS139352788 | Health Risk | Conflicting classifications of pathogenicity | Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS141036010 | Health Risk | Conflicting classifications of pathogenicity | Acyl-CoA dehydrogenase 9 deficiency, See cases, Inborn genetic diseases |
| RS141874052 | Health Risk | Conflicting classifications of pathogenicity | Acyl-CoA dehydrogenase 9 deficiency, ACAD9-related disorder, Acyl-CoA dehydrogenase 9 deficiency |
| RS144978857 | Health Risk | Conflicting classifications of pathogenicity | Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS1462293293 | Health Risk | Conflicting classifications of pathogenicity | Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS149595527 | Health Risk | Conflicting classifications of pathogenicity | Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS1935539638 | Health Risk | Conflicting classifications of pathogenicity | Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS1935884990 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS199739835 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS199919500 | Health Risk | Conflicting classifications of pathogenicity | Acyl-CoA dehydrogenase 9 deficiency, ACAD9-related disorder, Acyl-CoA dehydrogenase 9 deficiency |
| RS200134546 | Health Risk | Conflicting classifications of pathogenicity | Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS201014738 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2529272943 | Health Risk | Conflicting classifications of pathogenicity | Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS2529283290 | Health Risk | Conflicting classifications of pathogenicity | ACAD9-related disorder, ACAD9-related disorder |
| RS368222811 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS369361055 | Health Risk | Conflicting classifications of pathogenicity | Acyl-CoA dehydrogenase 9 deficiency, Inborn genetic diseases, Acyl-CoA dehydrogenase 9 deficiency |
| RS371417658 | Health Risk | Conflicting classifications of pathogenicity | Acyl-CoA dehydrogenase 9 deficiency, Inborn genetic diseases, Acyl-CoA dehydrogenase 9 deficiency |
| RS373112503 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS374356084 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS387906242 | Health Risk | Conflicting classifications of pathogenicity | Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS548405278 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS551193020 | Health Risk | Conflicting classifications of pathogenicity | Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS559422558 | Health Risk | Conflicting classifications of pathogenicity | Acyl-CoA dehydrogenase 9 deficiency, ACAD9-related disorder, Acyl-CoA dehydrogenase 9 deficiency |
| RS750899715 | Health Risk | Conflicting classifications of pathogenicity | Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS754646501 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS755346624 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Acyl-CoA dehydrogenase 9 deficiency, Inborn genetic diseases |
| RS761452056 | Health Risk | Conflicting classifications of pathogenicity | Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS761565265 | Health Risk | Conflicting classifications of pathogenicity | Acyl-CoA dehydrogenase 9 deficiency, Inborn genetic diseases, Acyl-CoA dehydrogenase 9 deficiency |
| RS762521317 | Health Risk | Conflicting classifications of pathogenicity | Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS768769460 | Health Risk | Conflicting classifications of pathogenicity | Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS772732061 | Health Risk | Conflicting classifications of pathogenicity | Acyl-CoA dehydrogenase 9 deficiency, ACAD9-related disorder, Acyl-CoA dehydrogenase 9 deficiency |
| RS774763527 | Health Risk | Conflicting classifications of pathogenicity | Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS775299800 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS778558550 | Health Risk | Conflicting classifications of pathogenicity | Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS778831368 | Health Risk | Conflicting classifications of pathogenicity | Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS779559482 | Health Risk | Conflicting classifications of pathogenicity | Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS781156571 | Health Risk | Conflicting classifications of pathogenicity | Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS863223871 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS863224845 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Acyl-CoA dehydrogenase 9 deficiency, Inborn genetic diseases |
| RS886057957 | Health Risk | Conflicting classifications of pathogenicity | Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS917547961 | Health Risk | Conflicting classifications of pathogenicity | Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |