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 |
|---|---|---|---|
| RS1012004126 | Health Risk | Likely pathogenic | Acyl-CoA dehydrogenase 9 deficiency, Mitochondrial complex I deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS1166156488 | Health Risk | Likely pathogenic | Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS1179305061 | Health Risk | Likely pathogenic | Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS1199523512 | Health Risk | Likely pathogenic | — |
| RS1235958275 | Health Risk | Likely pathogenic | Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS1257611357 | Health Risk | Likely pathogenic | Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS1370216607 | Health Risk | Likely pathogenic | — |
| RS142203806 | Health Risk | Likely pathogenic | Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS1432669401 | Health Risk | Likely pathogenic | — |
| RS1553730947 | Health Risk | Likely pathogenic | — |
| RS1553734044 | Health Risk | Likely pathogenic | Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS1559823447 | Health Risk | Likely pathogenic | Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS1559834691 | Health Risk | Likely pathogenic | Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS1680778 | Health Risk | Likely pathogenic | Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS1935034328 | Health Risk | Likely pathogenic | Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS1935543685 | Health Risk | Likely pathogenic | Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS1935731505 | Health Risk | Likely pathogenic | Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS1935828015 | Health Risk | Likely pathogenic | Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS1936007409 | Health Risk | Likely pathogenic | Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS2107651375 | Health Risk | Likely pathogenic | — |
| RS2107653861 | Health Risk | Likely pathogenic | Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS2107657800 | Health Risk | Likely pathogenic | — |
| RS2107659422 | Health Risk | Likely pathogenic | Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS2107661511 | Health Risk | Likely pathogenic | Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS2107662598 | Health Risk | Likely pathogenic | — |
| RS2107664575 | Health Risk | Likely pathogenic | Mitochondrial complex I deficiency, Acyl-CoA dehydrogenase 9 deficiency, Mitochondrial complex I deficiency |
| RS2529107245 | Health Risk | Likely pathogenic | Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS2529107282 | Health Risk | Likely pathogenic | Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS2529107329 | Health Risk | Likely pathogenic | Mitochondrial complex I deficiency, Mitochondrial complex I deficiency |
| RS2529221153 | Health Risk | Likely pathogenic | Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS2529232761 | Health Risk | Likely pathogenic | Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS2529232783 | Health Risk | Likely pathogenic | Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS2529251580 | Health Risk | Likely pathogenic | Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS2529257743 | Health Risk | Likely pathogenic | Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS2529261830 | Health Risk | Likely pathogenic | Mitochondrial complex I deficiency, Acyl-CoA dehydrogenase 9 deficiency, Mitochondrial complex I deficiency |
| RS2529261876 | Health Risk | Likely pathogenic | Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS2529261899 | Health Risk | Likely pathogenic | Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS2529262051 | Health Risk | Likely pathogenic | Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS2529264807 | Health Risk | Likely pathogenic | Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS2529269303 | Health Risk | Likely pathogenic | Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS2529270204 | Health Risk | Likely pathogenic | — |
| RS2529272982 | Health Risk | Likely pathogenic | Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS2529273135 | Health Risk | Likely pathogenic | Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS2529276766 | Health Risk | Likely pathogenic | — |
| RS2529276805 | Health Risk | Likely pathogenic | Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS2529277020 | Health Risk | Likely pathogenic | Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS2529278677 | Health Risk | Likely pathogenic | Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS2529279017 | Health Risk | Likely pathogenic | Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS2529279053 | Health Risk | Likely pathogenic | Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |
| RS2529279074 | Health Risk | Likely pathogenic | Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency |