NDUFA11
NADH:Ubiquinone Oxidoreductase Subunit A11
Gene Information Card
| Symbol | NDUFA11 |
|---|---|
| Full Name | NADH:Ubiquinone Oxidoreductase Subunit A11 |
| Gene Type | Protein coding |
| Chromosomal Location | 19p13.3 |
| NCBI Gene ID | 4694 ncbi.nlm.nih.gov/gene/4694 |
| Ensembl ID | ENSG00000105669 |
| UniProt ID | Q86Y39 |
| OMIM ID | 603833 |
| HGNC ID | 7692 |
| Aliases | CI-B14.7, B14.7, NADH-ubiquinone oxidoreductase B14.7 subunit |
Description
NDUFA11 encodes a subunit of mitochondrial NADH:ubiquinone oxidoreductase (Complex I), the first enzyme of the oxidative phosphorylation chain. This accessory subunit is essential for complex assembly and stability. Mutations cause mitochondrial complex I deficiency, leading to severe early-onset neurological and metabolic disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial complex I deficiency, nuclear type 1 (MC1DN1) | Loss-of-function mutations impair complex I assembly and activity, reducing ATP production and increasing oxidative stress. | OMIM #252010; ClinVar pathogenic variants |
| Leigh syndrome | Biallelic NDUFA11 mutations disrupt complex I, causing subacute necrotizing encephalomyelopathy. | Case reports in ClinVar and literature |
| Cardioencephalomyopathy | Severe complex I deficiency due to NDUFA11 mutations leads to combined cardiac and brain dysfunction. | Reported in NCBI GeneReviews |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Skeletal muscle | 10.8 | Medium |
| Liver | 6.2 | Low |
| Brain | 8.9 | Medium |
| Kidney | 7.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.3 | High expression |
| HeLa | 11.2 | Medium expression |
| HepG2 | 9.1 | Medium expression |
| SH-SY5Y | 13.0 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.185G>A (p.Trp62*) | Nonsense | Rare | Loss of function; truncation leads to complex I deficiency |
| c.238C>T (p.Arg80Trp) | Missense | Rare | Impaired complex I assembly and activity |
| c.1A>G (p.Met1?) | Start loss | Rare | Complete loss of protein expression |
Mutation functional classification
Loss of Function (LOF)
Most NDUFA11 pathogenic variants are loss-of-function, leading to complex I deficiency.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative effects described; 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: hsa00190)
• Respiratory electron transport (Reactome: R-HSA-611105)
• Complex I biogenesis (Reactome: R-HSA-6799198)
Protein Summary
NDUFA11 is a 14.7 kDa accessory subunit of mitochondrial complex I. It localizes to the inner mitochondrial membrane and is required for proper assembly and stability of the holoenzyme. The protein contains a transmembrane domain and interacts with other complex I subunits. Defects cause severe mitochondrial disorders.
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