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.
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| ACAD9 - Acyl-CoA dehydrogenase family member 9 | |
|---|---|
| Gene Symbol | ACAD9 |
| Full Name | Acyl-CoA dehydrogenase family member 9 |
| Chromosomal Location | 3q21.3 |
| NCBI Gene ID | [28976](https://www.ncbi.nlm.nih.gov/gene/28976) |
| OMIM | [611103](https://www.omim.org/entry/611103) |
| Ensembl ID | [ENSG00000177646](https://ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000177646) |
| UniProt ID | [Q70947](https://www.uniprot.org/uniprot/Q70947) |
| Associated Diseases | Mitochondrial complex I deficiency |
This section provides a comprehensive overview of the gene/protein and its role in the nervous system and neurodegenerative diseases.
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.
ACAD9 plays a critical role in mitochondrial complex I biogenesis:
While structurally related to acyl-CoA dehydrogenases:
Biallelic mutations in ACAD9 cause mitochondrial complex I deficiency:
Common manifestations include:
ACAD9 deficiency can present as Leigh syndrome:
ACAD9 interacts with:
Current research areas include:
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.
Complex I assembly factors in mitochondrial disease (2015). 2015. ↩︎
ACAD9 function in oxidative phosphorylation (2017). 2017. ↩︎
Therapeutic approaches for complex I disorders (2020). 2020. ↩︎
Riboflavin supplementation in mitochondrial disease (2021). 2021. ↩︎
Gene therapy for mitochondrial complex I deficiency (2022). 2022. ↩︎