NDUFA10
NADH:ubiquinone oxidoreductase subunit A10
Gene Information Card
| Symbol | NDUFA10 |
|---|---|
| Full Name | NADH:ubiquinone oxidoreductase subunit A10 |
| Gene Type | protein-coding |
| Chromosomal Location | 2q33.1 |
| NCBI Gene ID | 4705 ncbi.nlm.nih.gov/gene/4705 |
| Ensembl ID | ENSG00000130414 |
| UniProt ID | O95299 |
| OMIM ID | 603834 |
| HGNC ID | 7684 |
| Aliases | CI-42kD, NADH-ubiquinone oxidoreductase 42 kDa subunit, NDUFA10 |
Description
NDUFA10 encodes a 42 kDa accessory subunit of mitochondrial NADH:ubiquinone oxidoreductase (complex I), the first enzyme of the electron transport chain. This nuclear-encoded protein is imported into mitochondria and assembled into the membrane arm of complex I, where it contributes to structural stability and efficient electron transfer from NADH to coenzyme Q10. Mutations in NDUFA10 cause complex I deficiency, leading to early-onset mitochondrial disorders such as Leigh syndrome and cardioencephalomyopathy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Leigh syndrome | Biallelic pathogenic variants impair complex I assembly/activity, reducing ATP production in brain and muscle | PMID: 21236619, ClinVar |
| Mitochondrial complex I deficiency, nuclear type 33 | Loss-of-function mutations cause isolated complex I deficiency with multisystem involvement | OMIM #618243, PMID: 21236619 |
| Cardioencephalomyopathy | Severe complex I deficiency leads to hypertrophic cardiomyopathy and encephalopathy | PMID: 21236619, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 18.5 | High |
| Skeletal muscle | 15.2 | High |
| Kidney | 12.8 | Medium |
| Liver | 10.1 | Medium |
| Brain | 9.4 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 22.3 | High expression |
| HeLa | 18.7 | High expression |
| HepG2 | 14.5 | Medium expression |
| K562 | 11.2 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.345C>A (p.Tyr115*) | Nonsense | Rare | Premature stop, loss of protein function |
| c.542G>A (p.Arg181Gln) | Missense | Rare | Impaired complex I assembly |
| c.1A>G (p.Met1?) | Start loss | Rare | No translation initiation |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and start-loss variants that abolish NDUFA10 protein production or disrupt complex I assembly.
Gain of Function (GOF)
Not reported for NDUFA10.
Dominant Negative (DN)
Not reported; all pathogenic variants are recessive.
View complete mutation data：
Gene Ontology (GO)
| • NADH dehydrogenase (ubiquinone) activity | • mitochondrial respiratory chain complex I assembly |
| • mitochondrial electron transport | • NADH to ubiquinone |
| • mitochondrion |
Pathways
• Oxidative phosphorylation (KEGG: hsa00190)
• Respiratory electron transport (Reactome: R-HSA-611105)
• Complex I biogenesis (Reactome: R-HSA-6799198)
Protein Summary
NDUFA10 is a 42 kDa accessory subunit of mitochondrial complex I, located in the membrane arm. It is essential for the structural integrity and proper assembly of the holoenzyme. The protein contains a conserved domain that mediates interactions with other complex I subunits. Defects in NDUFA10 lead to isolated complex I deficiency, manifesting as Leigh syndrome, cardioencephalomyopathy, or other mitochondrial disorders with autosomal recessive inheritance.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NDUFA10 Knockout HEK293 Cell Line | EDJ-KQ5314 | Human | 4705 | Details Get a Quote |
| NDUFA10 Knockout HeLa Cell Line | EDJ-KQ27156 | Human | 4705 | Details Get a Quote |
| NDUFA10 Knockout A-549 Cell Line | EDJ-KQ28384 | Human | 4705 | Details Get a Quote |
| NDUFA10 Knockout HCT 116 Cell Line | EDJ-KQ28385 | Human | 4705 | Details Get a Quote |
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