NDUFA9
NADH:Ubiquinone Oxidoreductase Subunit A9
Gene Information Card
| Symbol | NDUFA9 |
|---|---|
| Full Name | NADH:Ubiquinone Oxidoreductase Subunit A9 |
| Gene Type | Protein coding |
| Chromosomal Location | 12p13.32 |
| NCBI Gene ID | 4704 ncbi.nlm.nih.gov/gene/4704 |
| Ensembl ID | ENSG00000139180 |
| UniProt ID | Q16795 |
| OMIM ID | 603834 |
| HGNC ID | 7693 |
| Aliases | CI-39k, MC1DN20, NDUFS2L |
Description
NDUFA9 encodes a 39 kDa accessory subunit of mitochondrial NADH:ubiquinone oxidoreductase (Complex I), the first enzyme of the electron transport chain. The protein is essential for Complex I assembly and stability. Mutations in NDUFA9 cause mitochondrial complex I deficiency, nuclear type 20 (MC1DN20), presenting with Leigh syndrome or leukodystrophy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial complex I deficiency, nuclear type 20 (MC1DN20) | Loss-of-function mutations impair Complex I assembly, reducing ATP production and increasing oxidative stress. | ClinVar, OMIM |
| Leigh syndrome | Defective Complex I leads to energy failure in basal ganglia and brainstem. | OMIM, PubMed |
| Leukodystrophy | White matter degeneration due to mitochondrial dysfunction. | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 18.5 | High |
| Skeletal muscle | 15.2 | High |
| Liver | 12.8 | Medium |
| Brain | 10.1 | Medium |
| Kidney | 9.5 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 22.3 | High expression |
| HeLa | 18.7 | High expression |
| SH-SY5Y | 14.1 | Medium expression |
| HepG2 | 12.6 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.178C>T (p.Arg60Trp) | Missense | Rare | Loss of Complex I activity |
| c.287_288del (p.Val96Alafs*3) | Frameshift | Rare | Complete loss of protein |
| c.416G>A (p.Arg139His) | Missense | Rare | Reduced Complex I assembly |
Mutation functional classification
Loss of Function (LOF)
Most reported mutations result in loss of function, impairing Complex I assembly and activity.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported; disease is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • NADH dehydrogenase (ubiquinone) activity (GO:0008137) | • Mitochondrial respiratory chain complex I assembly (GO:0032981) |
| • Mitochondrial inner membrane (GO:0005743) | • Oxidation-reduction process (GO:0055114) |
Pathways
• Oxidative phosphorylation (KEGG:00190)
• Respiratory electron transport (Reactome:R-HSA-611105)
• Complex I biogenesis (Reactome:R-HSA-6799198)
Protein Summary
NDUFA9 is a 39 kDa accessory subunit of mitochondrial Complex I. It contains a conserved domain similar to bacterial NADH dehydrogenase and is required for proper Complex I assembly. The protein localizes to the mitochondrial inner membrane and interacts with other Complex I subunits. Loss of NDUFA9 leads to Complex I deficiency and mitochondrial disease.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NDUFA9 Knockout HEK293 Cell Line | EDJ-KQ50468 | Human | 4704 | Details Get a Quote |
| NDUFA9 Knockout HeLa Cell Line | EDJ-KQ53972 | Human | 4704 | Details Get a Quote |
| NDUFA9 Knockout A-549 Cell Line | EDJ-KQ62461 | Human | 4704 | Details Get a Quote |
| NDUFA9 Knockout HCT 116 Cell Line | EDJ-KQ70928 | Human | 4704 | Details Get a Quote |
