ACAD8 Chromosome 11
Acyl-CoA dehydrogenase family member 8
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What This Gene Does
This gene encodes a member of the acyl-CoA dehydrogenase family of enzymes that catalyze the dehydrogenation of acyl-CoA derivatives in the metabolism of fatty acids or branch chained amino acids. The encoded protein is a mitochondrial enzyme that functions in catabolism of the branched-chain amino acid valine. Defects in this gene are the cause of isobutyryl-CoA dehydrogenase deficiency.[provided by RefSeq, Nov 2009]
Gene Info
Gene Group
"Acyl-CoA dehydrogenase family|Flavoproteins"
Locus Type
gene with protein product
Location
11q25
Ensembl
ENSG00000151498
Associated Conditions (6)
Deficiency of isobutyryl-CoA dehydrogenase
Inborn genetic diseases
ACAD8-related disorder
Thyroid cancer
nonmedullary
1
Key Variants
RS121908420
Conflicting classifications of pathogenicity
Deficiency of isobutyryl-CoA dehydrogenase, Deficiency of isobutyryl-CoA dehydrogenase
Health Risk
RS121908422
Conflicting classifications of pathogenicity
Deficiency of isobutyryl-CoA dehydrogenase, Deficiency of isobutyryl-CoA dehydrogenase
Health Risk
RS139792723
Conflicting classifications of pathogenicity
Deficiency of isobutyryl-CoA dehydrogenase, Deficiency of isobutyryl-CoA dehydrogenase
Health Risk
RS146145710
Conflicting classifications of pathogenicity
Deficiency of isobutyryl-CoA dehydrogenase, Deficiency of isobutyryl-CoA dehydrogenase
Health Risk
RS199868020
Conflicting classifications of pathogenicity
Deficiency of isobutyryl-CoA dehydrogenase, Deficiency of isobutyryl-CoA dehydrogenase
Health Risk
RS200620279
Conflicting classifications of pathogenicity
Deficiency of isobutyryl-CoA dehydrogenase, Inborn genetic diseases, ACAD8-related disorder
Health Risk
RS201273972
Conflicting classifications of pathogenicity
Deficiency of isobutyryl-CoA dehydrogenase, Inborn genetic diseases, Deficiency of isobutyryl-CoA dehydrogenase
Health Risk
RS367857040
Conflicting classifications of pathogenicity
Deficiency of isobutyryl-CoA dehydrogenase, Deficiency of isobutyryl-CoA dehydrogenase
Health Risk
RS368653287
Conflicting classifications of pathogenicity
Deficiency of isobutyryl-CoA dehydrogenase, Deficiency of isobutyryl-CoA dehydrogenase
Health Risk
RS371033488
Conflicting classifications of pathogenicity
Deficiency of isobutyryl-CoA dehydrogenase, Deficiency of isobutyryl-CoA dehydrogenase
Health Risk
RS371156848
Conflicting classifications of pathogenicity
Deficiency of isobutyryl-CoA dehydrogenase, ACAD8-related disorder, Deficiency of isobutyryl-CoA dehydrogenase
Health Risk
RS371449613
Conflicting classifications of pathogenicity
Deficiency of isobutyryl-CoA dehydrogenase, Deficiency of isobutyryl-CoA dehydrogenase
Health Risk
All Variants (51)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS121908420 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of isobutyryl-CoA dehydrogenase, Deficiency of isobutyryl-CoA dehydrogenase |
| RS121908422 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of isobutyryl-CoA dehydrogenase, Deficiency of isobutyryl-CoA dehydrogenase |
| RS139792723 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of isobutyryl-CoA dehydrogenase, Deficiency of isobutyryl-CoA dehydrogenase |
| RS146145710 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of isobutyryl-CoA dehydrogenase, Deficiency of isobutyryl-CoA dehydrogenase |
| RS199868020 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of isobutyryl-CoA dehydrogenase, Deficiency of isobutyryl-CoA dehydrogenase |
| RS200620279 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of isobutyryl-CoA dehydrogenase, Inborn genetic diseases, ACAD8-related disorder |
| RS201273972 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of isobutyryl-CoA dehydrogenase, Inborn genetic diseases, Deficiency of isobutyryl-CoA dehydrogenase |
| RS367857040 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of isobutyryl-CoA dehydrogenase, Deficiency of isobutyryl-CoA dehydrogenase |
| RS368653287 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of isobutyryl-CoA dehydrogenase, Deficiency of isobutyryl-CoA dehydrogenase |
| RS371033488 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of isobutyryl-CoA dehydrogenase, Deficiency of isobutyryl-CoA dehydrogenase |
| RS371156848 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of isobutyryl-CoA dehydrogenase, ACAD8-related disorder, Deficiency of isobutyryl-CoA dehydrogenase |
| RS371449613 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of isobutyryl-CoA dehydrogenase, Deficiency of isobutyryl-CoA dehydrogenase |
| RS371550147 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of isobutyryl-CoA dehydrogenase, Deficiency of isobutyryl-CoA dehydrogenase |
| RS374985215 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of isobutyryl-CoA dehydrogenase, Inborn genetic diseases, Thyroid cancer |
| RS375812492 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of isobutyryl-CoA dehydrogenase, Deficiency of isobutyryl-CoA dehydrogenase |
| RS377629003 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of isobutyryl-CoA dehydrogenase, Deficiency of isobutyryl-CoA dehydrogenase |
| RS749474432 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of isobutyryl-CoA dehydrogenase, Inborn genetic diseases, Deficiency of isobutyryl-CoA dehydrogenase |
| RS767613745 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of isobutyryl-CoA dehydrogenase, ACAD8-related disorder, Deficiency of isobutyryl-CoA dehydrogenase |
| RS768954546 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of isobutyryl-CoA dehydrogenase, Inborn genetic diseases, Deficiency of isobutyryl-CoA dehydrogenase |
| RS772337149 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of isobutyryl-CoA dehydrogenase, Deficiency of isobutyryl-CoA dehydrogenase |
| RS777635296 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of isobutyryl-CoA dehydrogenase, Deficiency of isobutyryl-CoA dehydrogenase |
| RS780609527 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of isobutyryl-CoA dehydrogenase, Inborn genetic diseases, Deficiency of isobutyryl-CoA dehydrogenase |
| RS1339547372 | Health Risk | Likely pathogenic | Deficiency of isobutyryl-CoA dehydrogenase, Deficiency of isobutyryl-CoA dehydrogenase |
| RS1555067461 | Health Risk | Likely pathogenic | Deficiency of isobutyryl-CoA dehydrogenase, Deficiency of isobutyryl-CoA dehydrogenase |
| RS537831211 | Health Risk | Likely pathogenic | Deficiency of isobutyryl-CoA dehydrogenase, Deficiency of isobutyryl-CoA dehydrogenase |
| RS751940610 | Health Risk | Likely pathogenic | Deficiency of isobutyryl-CoA dehydrogenase, Deficiency of isobutyryl-CoA dehydrogenase |
| RS752153225 | Health Risk | Likely pathogenic | Deficiency of isobutyryl-CoA dehydrogenase, Deficiency of isobutyryl-CoA dehydrogenase |
| RS757899755 | Health Risk | Likely pathogenic | Deficiency of isobutyryl-CoA dehydrogenase, Deficiency of isobutyryl-CoA dehydrogenase |
| RS763520594 | Health Risk | Likely pathogenic | Deficiency of isobutyryl-CoA dehydrogenase, Deficiency of isobutyryl-CoA dehydrogenase |
| RS770663870 | Health Risk | Likely pathogenic | Deficiency of isobutyryl-CoA dehydrogenase, Deficiency of isobutyryl-CoA dehydrogenase |
| RS778203609 | Health Risk | Likely pathogenic | — |
| RS934865815 | Health Risk | Likely pathogenic | ACAD8-related disorder, ACAD8-related disorder |
| RS1064793430 | Health Risk | Pathogenic | — |
| RS1207482914 | Health Risk | Pathogenic | Deficiency of isobutyryl-CoA dehydrogenase, Deficiency of isobutyryl-CoA dehydrogenase |
| RS121908421 | Health Risk | Pathogenic | Deficiency of isobutyryl-CoA dehydrogenase, Deficiency of isobutyryl-CoA dehydrogenase |
| RS1591505809 | Health Risk | Pathogenic | Deficiency of isobutyryl-CoA dehydrogenase, Deficiency of isobutyryl-CoA dehydrogenase |
| RS2136082682 | Health Risk | Pathogenic | — |
| RS369445365 | Health Risk | Pathogenic | Inborn genetic diseases, Deficiency of isobutyryl-CoA dehydrogenase, Inborn genetic diseases |
| RS398124269 | Health Risk | Pathogenic | — |
| RS572619478 | Health Risk | Pathogenic | Deficiency of isobutyryl-CoA dehydrogenase, Deficiency of isobutyryl-CoA dehydrogenase, ACAD8-related disorder |
| RS746960051 | Health Risk | Pathogenic | Deficiency of isobutyryl-CoA dehydrogenase, Deficiency of isobutyryl-CoA dehydrogenase |
| RS759600553 | Health Risk | Pathogenic | Deficiency of isobutyryl-CoA dehydrogenase, Deficiency of isobutyryl-CoA dehydrogenase |
| RS766307334 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS768701760 | Health Risk | Pathogenic | Deficiency of isobutyryl-CoA dehydrogenase, Deficiency of isobutyryl-CoA dehydrogenase |
| RS773472208 | Health Risk | Pathogenic | Deficiency of isobutyryl-CoA dehydrogenase, Deficiency of isobutyryl-CoA dehydrogenase |
| RS777756488 | Health Risk | Pathogenic | — |
| RS778823613 | Health Risk | Pathogenic | Deficiency of isobutyryl-CoA dehydrogenase, Deficiency of isobutyryl-CoA dehydrogenase |
| RS779385985 | Health Risk | Pathogenic | Deficiency of isobutyryl-CoA dehydrogenase, Deficiency of isobutyryl-CoA dehydrogenase, Deficiency of isobutyryl-CoA dehydrogenase |
| RS121908419 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of isobutyryl-CoA dehydrogenase, Deficiency of isobutyryl-CoA dehydrogenase |
| RS374317179 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of isobutyryl-CoA dehydrogenase, Deficiency of isobutyryl-CoA dehydrogenase |