Acad9 Gene is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
<div class="infobox infobox-gene"> [@mitochondrial2023] <table> <tr><th colspan="2" style="background:#f8f9fa; text-align:center;">ACAD9 - Acyl-CoA dehydrogenase family member 9</th></tr> <tr><td><b>Gene Symbol</b></td><td>ACAD9</td></tr> <tr><td><b>Full Name</b></td><td>Acyl-CoA dehydrogenase family member 9</td></tr> <tr><td><b>Chromosomal Location</b></td><td>3q21.3</td></tr> <tr><td><b>NCBI Gene ID</b></td><td>[28976](https://www.ncbi.nlm.nih.gov/gene/28976)</td></tr> <tr><td><b>OMIM</b></td><td>[611103](https://www.omim.org/entry/611103)</td></tr> <tr><td><b>Ensembl ID</b></td><td>[ENSG00000177646](https://ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000177646)</td></tr> <tr><td><b>UniProt ID</b></td><td>[Q70947](https://www.uniprot.org/uniprot/Q70947)</td></tr> <tr><td><b>Associated Diseases</b></td><td>Mitochondrial complex I deficiency</td></tr> </table> </div>
Overview
This section provides a comprehensive overview of the gene/protein and its role in the nervous system and neurodegenerative diseases.
Function
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ACAD9 Gene
Introduction
Acad9 Gene is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
<div class="infobox infobox-gene"> [@mitochondrial2023] <table> <tr><th colspan="2" style="background:#f8f9fa; text-align:center;">ACAD9 - Acyl-CoA dehydrogenase family member 9</th></tr> <tr><td><b>Gene Symbol</b></td><td>ACAD9</td></tr> <tr><td><b>Full Name</b></td><td>Acyl-CoA dehydrogenase family member 9</td></tr> <tr><td><b>Chromosomal Location</b></td><td>3q21.3</td></tr> <tr><td><b>NCBI Gene ID</b></td><td>[28976](https://www.ncbi.nlm.nih.gov/gene/28976)</td></tr> <tr><td><b>OMIM</b></td><td>[611103](https://www.omim.org/entry/611103)</td></tr> <tr><td><b>Ensembl ID</b></td><td>[ENSG00000177646](https://ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000177646)</td></tr> <tr><td><b>UniProt ID</b></td><td>[Q70947](https://www.uniprot.org/uniprot/Q70947)</td></tr> <tr><td><b>Associated Diseases</b></td><td>Mitochondrial complex I deficiency</td></tr> </table> </div>
Overview
This section provides a comprehensive overview of the gene/protein and its role in the nervous system and neurodegenerative diseases.
Function
The ACAD9 gene (Acyl-CoA Dehydrogenase Family Member 9) encodes a mitochondrial protein essential for the assembly and function of mitochondrial complex I (NADH:ubiquinone oxidoreductase), the largest complex of the electron transport chain. ACAD9 functions as a scaffolding protein that facilitates the proper assembly of complex I subunits.
Complex I Assembly
ACAD9 plays a critical role in mitochondrial complex I biogenesis:
Acts as an assembly factor for complex I
Interacts with other assembly factors (NDUFAF1, NDUFAF2, NDUFAF4)
Required for the incorporation of multiple core subunits
Helps stabilize intermediate assembly complexes
Enzymatic Activity
While structurally related to acyl-CoA dehydrogenases:
Does not have significant dehydrogenase activity toward fatty acids
Functions primarily as a structural/assembly protein
Binds FAD (flavin adenine dinucleotide) as a cofactor
Required for proper folding of complex I modules
Disease Associations
Mitochondrial Complex I Deficiency
Biallelic mutations in ACAD9 cause mitochondrial complex I deficiency:
Severe metabolic encephalopathy
Lactic acidosis
Developmental delay
Hypotonia
Failure to thrive
Often fatal in childhood
Clinical Phenotypes
Common manifestations include:
Encephalomyopathy
Cardiomyopathy
Liver dysfunction
Recurrent infections
Movement disorders
Leigh Syndrome
ACAD9 deficiency can present as Leigh syndrome:
Subacute necrotizing encephalomyelopathy
Characteristic MRI findings
Progressive neurological deterioration
Metabolic crisis episodes
Expression Pattern
Tissue Distribution
Highest expression: heart, skeletal muscle, brain
Moderate expression: liver, kidney
Lower expression in other tissues
Brain Regions
Cerebral [cortex](/brain-regions/cortex)
Cerebellum
Brainstem
Basal ganglia
Molecular Interactions
ACAD9 interacts with:
NDUFAF1: Complex I assembly factor
NDUFAF2: Alternative complex I assembly factor
NDUFAF4: Assembly factor for intermediate modules
Complex I subunits: Various core and accessory subunits
FAD: Flavin cofactor binding
Clinical Significance
Diagnosis
Genetic testing for ACAD9 mutations
Biochemical testing (complex I activity)
Muscle biopsy
MRI brain imaging
Metabolic screening
Treatment
No approved disease-modifying therapy
Supportive care
CoQ10 supplementation (variable response)
Riboflavin supplementation
Physical therapy
Seizure management
Prognosis
Variable depending on mutation severity
Early-onset forms often severe
Some patients survive into adulthood
Research Directions
Current research areas include:
Understanding ACAD9 function in complex I assembly
Developing small molecules to enhance assembly
Gene therapy approaches
Biomarker development for monitoring disease progression
Mechanism Map
Mermaid diagram (expand to render)
See Also
[Mitochondrial Complex I Deficiency](/diseases/mitochondrial-complex-i-deficiency)
[Complex I Assembly](/mechanisms/complex-i-assembly)
Background
The study of Acad9 Gene has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.
Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.
External Links
[PubMed](https://pubmed.ncbi.nlm.nih.gov/) - Biomedical literature
[Alzheimer's Disease Neuroimaging Initiative](https://adni.loni.usc.edu/) - Research data
[Allen Brain Atlas](https://brain-map.org/) - Brain gene expression data
References
[Unknown, ACAD9 mutations cause mitochondrial complex I deficiency (2010) (2010)](https://pubmed.ncbi.nlm.nih.gov/20140242/)
[Unknown, Complex I assembly factors in mitochondrial disease (2015) (2015)](https://pubmed.ncbi.nlm.nih.gov/25939508/)
[Unknown, ACAD9 function in oxidative phosphorylation (2017) (2017)](https://pubmed.ncbi.nlm.nih.gov/28377534/)