ACAD9
Acyl-CoA Dehydrogenase Family Member 9
Gene Information Card
| Symbol | ACAD9 |
|---|---|
| Full Name | Acyl-CoA Dehydrogenase Family Member 9 |
| Gene Type | Protein coding |
| Chromosomal Location | 3q21.3 |
| NCBI Gene ID | 28976 ncbi.nlm.nih.gov/gene/28976 |
| Ensembl ID | ENSG00000177646 |
| UniProt ID | Q9H845 |
| OMIM ID | 611103 |
| HGNC ID | 21597 |
| Aliases | ACAD-9, ACAD9_HUMAN |
Description
ACAD9 encodes a member of the acyl-CoA dehydrogenase family that functions in mitochondrial fatty acid beta-oxidation and is also required for the assembly of mitochondrial complex I. Mutations in this gene cause ACAD9 deficiency, a disorder characterized by mitochondrial complex I deficiency and impaired fatty acid oxidation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial complex I deficiency, nuclear type 20 | Loss of ACAD9 function disrupts complex I assembly and fatty acid oxidation | OMIM #611126 |
| ACAD9 deficiency | Impaired beta-oxidation and complex I assembly due to biallelic mutations | ClinVar, OMIM #611103 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Heart | 10.8 | Medium |
| Skeletal muscle | 9.2 | Medium |
| Kidney | 8.1 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.3 | High expression |
| K-562 | 7.6 | Medium expression |
| HeLa | 6.9 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1240C>T (p.Arg414Cys) | Missense | Rare | Reduced enzyme activity and complex I assembly |
| c.859G>A (p.Gly287Arg) | Missense | Rare | Impaired protein stability and function |
Mutation functional classification
Loss of Function (LOF)
Most ACAD9 mutations result in loss of enzyme activity and complex I assembly function.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • mitochondrial respiratory chain complex I assembly | • fatty acid beta-oxidation |
| • acyl-CoA dehydrogenase activity | • flavin adenine dinucleotide binding |
| • mitochondrion |
Pathways
• Mitochondrial fatty acid beta-oxidation
• Respiratory electron transport (Complex I assembly)
Protein Summary
ACAD9 is a mitochondrial protein that catalyzes the initial step of fatty acid beta-oxidation and is essential for the assembly of mitochondrial complex I. It contains a conserved acyl-CoA dehydrogenase domain and binds FAD as a cofactor.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ACAD9 Knockout HEK293 Cell Line | EDJ-KQ8952 | Human | 28976 | Details Get a Quote |
| ACAD9 Knockout A-549 Cell Line | EDJ-KQ35328 | Human | 28976 | Details Get a Quote |
| ACAD9 Knockout HCT 116 Cell Line | EDJ-KQ35329 | Human | 28976 | Details Get a Quote |
| ACAD9 Knockout HeLa Cell Line | EDJ-KQ35330 | Human | 28976 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
