ACAD8: Acyl-CoA Dehydrogenase Family Member 8
Key enzyme in isoleucine catabolism and mitochondrial fatty acid oxidation
Gene Information Card
| Symbol | ACAD8 |
|---|---|
| Full Name | Acyl-CoA Dehydrogenase Family Member 8 |
| Gene Type | Protein coding |
| Chromosomal Location | 11q25 |
| NCBI Gene ID | 27034 ncbi.nlm.nih.gov/gene/27034 |
| Ensembl ID | ENSG00000151498 |
| UniProt ID | Q9UKU7 |
| OMIM ID | 604773 |
| HGNC ID | 88 |
| Aliases | IBD, ACAD-8, isobutyryl-CoA dehydrogenase |
Description
ACAD8 encodes a member of the acyl-CoA dehydrogenase family, specifically isobutyryl-CoA dehydrogenase (IBD). This mitochondrial enzyme catalyzes the conversion of isobutyryl-CoA to methylacrylyl-CoA in the valine catabolism pathway. It also plays a role in the beta-oxidation of short branched-chain fatty acids. Mutations in ACAD8 cause isobutyryl-CoA dehydrogenase deficiency (IBDD), a rare autosomal recessive disorder of valine metabolism.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Isobutyryl-CoA dehydrogenase deficiency (IBDD) | Loss-of-function mutations impair valine catabolism, leading to accumulation of isobutyryl-CoA and secondary metabolites | ClinVar, OMIM #604773 |
| Elevated C4-carnitine (newborn screening) | ACAD8 deficiency results in increased isobutyrylcarnitine (C4) in blood | ClinVar, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 10.2 | Medium |
| Heart | 8.7 | Medium |
| Skeletal Muscle | 6.3 | Low |
| Brain | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.3 | Hepatocellular carcinoma line |
| HEK293 | 9.8 | Embryonic kidney line |
| K562 | 5.2 | Leukemia line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.286C>T (p.Arg96Trp) | Missense | Rare | Loss of enzyme activity |
| c.424G>A (p.Glu142Lys) | Missense | Rare | Reduced catalytic efficiency |
| c.1A>G (p.Met1Val) | Start loss | Rare | Complete loss of protein |
Mutation functional classification
Loss of Function (LOF)
Most ACAD8 mutations cause loss of enzyme activity, leading to IBDD
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
| • GO:0003995 - acyl-CoA dehydrogenase activity | • GO:0005739 - mitochondrion |
| • GO:0050660 - flavin adenine dinucleotide binding | • GO:0006552 - valine catabolic process |
| • GO:0016627 - oxidoreductase activity | • acting on the CH-CH group of donors |
Pathways
• Valine
• leucine and isoleucine degradation (KEGG: hsa00280)
• Mitochondrial fatty acid beta-oxidation (Reactome: R-HSA-77289)
Protein Summary
ACAD8 encodes a 418-amino acid mitochondrial matrix protein that functions as a homotetramer. Each subunit binds one FAD molecule. The enzyme specifically dehydrogenates isobutyryl-CoA (from valine) and other short branched-chain acyl-CoAs. Deficiency leads to accumulation of isobutyrylcarnitine and organic acids, detectable by newborn screening.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ACAD8 Knockout HEK293 Cell Line | EDJ-KQ8651 | Human | 27034 | Details Get a Quote |
| ACAD8 Knockout A-549 Cell Line | EDJ-KQ34821 | Human | 27034 | Details Get a Quote |
| ACAD8 Knockout HCT 116 Cell Line | EDJ-KQ34822 | Human | 27034 | Details Get a Quote |
| ACAD8 Knockout HeLa Cell Line | EDJ-KQ34823 | Human | 27034 | Details Get a Quote |
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