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 |
|---|---|---|---|
| RS767041100 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of isobutyryl-CoA dehydrogenase, Deficiency of isobutyryl-CoA dehydrogenase |