NDUFB10
NADH:Ubiquinone Oxidoreductase Subunit B10
Gene Information Card
| Symbol | NDUFB10 |
|---|---|
| Full Name | NADH:Ubiquinone Oxidoreductase Subunit B10 |
| Gene Type | Protein coding |
| Chromosomal Location | 16p13.3 |
| NCBI Gene ID | 4716 ncbi.nlm.nih.gov/gene/4716 |
| Ensembl ID | ENSG00000140990 |
| UniProt ID | O96000 |
| OMIM ID | 603843 |
| HGNC ID | 7699 |
| Aliases | CI-B10, CI-B15, NADH dehydrogenase (ubiquinone) 1 beta subcomplex 10 |
Description
NDUFB10 encodes a non-catalytic accessory subunit of mitochondrial complex I (NADH:ubiquinone oxidoreductase), the first enzyme of the electron transport chain. This subunit is part of the iron-sulfur (IP) fragment of complex I and is essential for assembly and stability of the holoenzyme. Mutations in NDUFB10 are associated with mitochondrial complex I deficiency, leading to a range of clinical phenotypes including Leigh syndrome, cardiomyopathy, and encephalopathy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial complex I deficiency, nuclear type 33 (MC1DN33) | Biallelic loss-of-function mutations impair complex I assembly and activity, reducing ATP production and increasing oxidative stress. | ClinVar, OMIM #618253 |
| Leigh syndrome | Deficient complex I activity leads to neurodegeneration and bilateral brainstem lesions. | ClinVar, literature reports |
| Cardiomyopathy | Complex I dysfunction in cardiac muscle causes energy failure and hypertrophic cardiomyopathy. | ClinVar, case studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 21.3 | High |
| Skeletal muscle | 18.7 | High |
| Liver | 12.1 | Medium |
| Brain | 15.4 | Medium |
| Kidney | 14.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 22.5 | High expression |
| HeLa | 19.8 | High expression |
| HepG2 | 16.3 | Medium expression |
| SH-SY5Y | 14.7 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.208C>T (p.Arg70*) | Nonsense | Rare | Loss of function; truncation of protein leading to complex I deficiency |
| c.287T>C (p.Leu96Pro) | Missense | Rare | Likely loss of function; disrupts subunit folding and assembly |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of function; prevents translation initiation |
Mutation functional classification
Loss of Function (LOF)
Most reported mutations are loss-of-function, leading to complex I deficiency and mitochondrial disease.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported; disease is recessive.
View complete mutation data：
Gene Ontology (GO)
| • NADH dehydrogenase (ubiquinone) activity | • mitochondrial respiratory chain complex I |
| • mitochondrial inner membrane | • oxidation-reduction process |
| • electron transport chain |
Pathways
• Oxidative phosphorylation (KEGG: hsa00190)
• Respiratory electron transport (Reactome: R-HSA-611105)
• Complex I biogenesis (Reactome: R-HSA-6799198)
Protein Summary
NDUFB10 is a 172-amino acid protein (19.5 kDa) localized to the mitochondrial inner membrane. It is a component of the iron-sulfur (IP) subcomplex of NADH:ubiquinone oxidoreductase (complex I). The protein contains a transmembrane domain and is required for proper assembly and stability of the complex. Defects in NDUFB10 impair complex I activity, leading to mitochondrial dysfunction and energy metabolism disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NDUFB10 Knockout HEK293 Cell Line | EDJ-KQ4543 | Human | 4716 | Details Get a Quote |
| NDUFB10 Knockout A-549 Cell Line | EDJ-KQ28399 | Human | 4716 | Details Get a Quote |
| NDUFB10 Knockout HCT 116 Cell Line | EDJ-KQ28401 | Human | 4716 | Details Get a Quote |
| NDUFB10 Knockout HeLa Cell Line | EDJ-KQ28402 | Human | 4716 | Details Get a Quote |
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