NDUFS4
NADH:Ubiquinone Oxidoreductase Core Subunit S4
Gene Information Card
| Symbol | NDUFS4 |
|---|---|
| Full Name | NADH:ubiquinone oxidoreductase core subunit S4 |
| Gene Type | Protein coding |
| Chromosomal Location | 5q11.2 |
| NCBI Gene ID | 4724 ncbi.nlm.nih.gov/gene/4724 |
| Ensembl ID | ENSG00000160188 |
| UniProt ID | O43181 |
| OMIM ID | 602694 |
| HGNC ID | 7712 |
| Aliases | CI-18, CI-18 kDa, CI-18kD, CI18, MC1DN1, NADH-ubiquinone oxidoreductase 18 kDa subunit |
Description
The NDUFS4 gene encodes a nuclear-encoded accessory subunit of mitochondrial complex I (NADH:ubiquinone oxidoreductase), the first enzyme of the electron transport chain. This subunit is essential for complex I assembly and stability. Mutations in NDUFS4 cause mitochondrial complex I deficiency, often presenting as Leigh syndrome, a severe neurodegenerative disorder.
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, leading to defective oxidative phosphorylation and ATP depletion. | ClinVar, OMIM |
| Leigh syndrome | Biallelic NDUFS4 mutations disrupt mitochondrial energy metabolism, causing neurodegeneration with bilateral brainstem lesions. | OMIM, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.3 | Medium |
| Brain | 8.7 | Medium |
| Liver | 6.5 | Low |
| Skeletal Muscle | 10.1 | Medium |
| Kidney | 7.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.4 | High expression |
| HeLa | 11.2 | Medium expression |
| SH-SY5Y | 9.8 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.316C>T (p.Arg106*) | Nonsense | Rare | Premature stop codon; loss of function |
| c.289G>A (p.Gly97Arg) | Missense | Rare | Impaired complex I assembly |
| c.462delA (p.Glu155fs) | Frameshift | Rare | Loss of function; truncated protein |
Mutation functional classification
Loss of Function (LOF)
Most NDUFS4 mutations are loss-of-function, leading to complex I deficiency and reduced ATP production.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative effects described; recessive inheritance.
View complete mutation data：
Gene Ontology (GO)
| • NADH dehydrogenase (ubiquinone) activity | • mitochondrial respiratory chain complex I assembly |
| • oxidation-reduction process | • mitochondrial inner membrane |
Pathways
• Oxidative phosphorylation (KEGG: hsa00190)
• Parkinson disease (KEGG: hsa05012)
• Non-alcoholic fatty liver disease (KEGG: hsa04932)
Protein Summary
NDUFS4 is a 175-amino acid accessory subunit of mitochondrial complex I. It localizes to the mitochondrial inner membrane and is required for proper complex I assembly and stability. The protein contains a conserved NDUFS4 domain and undergoes phosphorylation, which may regulate complex I activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NDUFS4 Knockout HEK293 Cell Line | EDJ-KQ3451 | Human | 4724 | Details Get a Quote |
| NDUFS4 Knockout A-549 Cell Line | EDJ-KQ25189 | Human | 4724 | Details Get a Quote |
| NDUFS4 Knockout HCT 116 Cell Line | EDJ-KQ25190 | Human | 4724 | Details Get a Quote |
| NDUFS4 Knockout HeLa Cell Line | EDC10185 | Human | 4724 | Details Get a Quote |
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