NDUFB11
NADH:Ubiquinone Oxidoreductase Subunit B11
Gene Information Card
| Symbol | NDUFB11 |
|---|---|
| Full Name | NADH:Ubiquinone Oxidoreductase Subunit B11 |
| Gene Type | Protein coding |
| Chromosomal Location | Xp11.3 |
| NCBI Gene ID | 54539 ncbi.nlm.nih.gov/gene/54539 |
| Ensembl ID | ENSG00000147123 |
| UniProt ID | Q9NX14 |
| OMIM ID | 300403 |
| HGNC ID | 24217 |
| Aliases | ESSS, CI-ESSS, NDUFB11, MC1DN30 |
Description
NDUFB11 encodes a small accessory subunit of mitochondrial complex I (NADH:ubiquinone oxidoreductase), the first enzyme of the oxidative phosphorylation chain. The protein is located in the inner mitochondrial membrane and is essential for complex I assembly and stability. Mutations in NDUFB11 cause 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 30 (MC1DN30) | Loss-of-function mutations impair complex I assembly and activity, reducing ATP production and increasing oxidative stress. | OMIM #301020; ClinVar |
| Leigh syndrome | Biallelic or X-linked recessive NDUFB11 mutations disrupt mitochondrial respiration in the brainstem and basal ganglia. | OMIM #256000; PubMed PMID: 28471437 |
| Cardioencephalomyopathy | Severe NDUFB11 variants cause combined respiratory chain defects leading to early-onset cardiomyopathy and neurological deterioration. | OMIM #300403; PubMed PMID: 28471437 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Skeletal muscle | 8.3 | Medium |
| Brain | 6.7 | Low |
| Liver | 5.1 | Low |
| Kidney | 7.9 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | High expression |
| HeLa | 11.8 | Medium expression |
| HepG2 | 9.4 | Medium expression |
| K562 | 6.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense/start loss | Rare | Loss of protein translation; complex I deficiency |
| c.238C>T (p.Arg80*) | Nonsense | Rare | Premature truncation; loss of function |
| c.286G>A (p.Gly96Arg) | Missense | Rare | Impaired complex I assembly; Leigh syndrome |
Mutation functional classification
Loss of Function (LOF)
Most reported NDUFB11 mutations are loss-of-function, leading to complex I deficiency and mitochondrial disease.
Gain of Function (GOF)
No evidence of gain-of-function mutations in NDUFB11.
Dominant Negative (DN)
Not described; X-linked recessive inheritance pattern suggests no dominant-negative effect.
View complete mutation data：
Gene Ontology (GO)
| • NADH dehydrogenase (ubiquinone) activity | • mitochondrial respiratory chain complex I assembly |
| • mitochondrial inner membrane | • oxidation-reduction process |
Pathways
• Oxidative phosphorylation (KEGG: hsa00190)
• Respiratory electron transport (Reactome: R-HSA-611105)
• Complex I biogenesis (Reactome: R-HSA-6799198)
Protein Summary
NDUFB11 is a 153-amino acid protein (17 kDa) that localizes to the mitochondrial inner membrane as part of the hydrophobic arm of complex I. It is not directly involved in electron transfer but is critical for the structural integrity and assembly of the holoenzyme. The protein contains a transmembrane domain and interacts with other complex I subunits. Defects in NDUFB11 lead to impaired mitochondrial respiration and are associated with early-onset mitochondrial disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NDUFB11 Knockout HEK293 Cell Line | EDJ-KQ51372 | Human | 54539 | Details Get a Quote |
| NDUFB11 Knockout HeLa Cell Line | EDJ-KQ56433 | Human | 54539 | Details Get a Quote |
| NDUFB11 Knockout A-549 Cell Line | EDJ-KQ64928 | Human | 54539 | Details Get a Quote |
| NDUFB11 Knockout HCT 116 Cell Line | EDJ-KQ73370 | Human | 54539 | Details Get a Quote |
