NDUFB8
NADH:ubiquinone oxidoreductase subunit B8
Gene Information Card
| Symbol | NDUFB8 |
|---|---|
| Full Name | NADH:ubiquinone oxidoreductase subunit B8 |
| Gene Type | protein-coding |
| Chromosomal Location | 10q24.31 |
| NCBI Gene ID | 4714 ncbi.nlm.nih.gov/gene/4714 |
| Ensembl ID | ENSG00000166136 |
| UniProt ID | O95169 |
| OMIM ID | 602140 |
| HGNC ID | 7703 |
| Aliases | CI-B8, CI-B18, MC1DN22 |
Description
NDUFB8 encodes a 18 kDa subunit of mitochondrial complex I (NADH:ubiquinone oxidoreductase), the first enzyme of the electron transport chain. This nuclear-encoded accessory subunit is essential for complex I assembly and stability. Mutations in NDUFB8 cause mitochondrial complex I deficiency, often presenting as Leigh syndrome or other early-onset neurological disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial complex I deficiency, nuclear type 22 (MC1DN22) | Loss-of-function mutations impair complex I assembly and activity, reducing ATP production and increasing oxidative stress. | ClinVar, OMIM |
| Leigh syndrome | Biallelic pathogenic variants lead to progressive neurodegeneration with bilateral brainstem lesions. | OMIM, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 22.5 | High |
| Skeletal muscle | 18.3 | High |
| Liver | 12.1 | Medium |
| Brain | 15.7 | Medium |
| Kidney | 14.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 20.1 | High expression |
| HeLa | 17.8 | High expression |
| SH-SY5Y | 15.4 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.209G>A (p.Arg70His) | Missense | Rare | Reduced complex I activity; associated with Leigh syndrome |
| c.287_288delAG (p.Gln96Argfs*3) | Frameshift | Rare | Loss of protein function; complex I deficiency |
Mutation functional classification
Loss of Function (LOF)
Most pathogenic mutations are loss-of-function, leading to complex I assembly failure and reduced enzymatic activity.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not described; disease is typically recessive.
View complete mutation data：
Gene Ontology (GO)
| • mitochondrial respiratory chain complex I assembly | • NADH dehydrogenase (ubiquinone) activity |
| • mitochondrial inner membrane | • oxidation-reduction process |
Pathways
• Oxidative phosphorylation (KEGG: hsa00190)
• Respiratory electron transport (Reactome: R-HSA-611105)
Protein Summary
NDUFB8 is a 18.1 kDa protein (158 amino acids) located in the mitochondrial inner membrane. It is a non-catalytic accessory subunit of complex I, required for the assembly and stabilization of the holoenzyme. The protein contains a transmembrane domain and is highly conserved across species.
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