NDUFS7
NADH:Ubiquinone Oxidoreductase Core Subunit S7
Gene Information Card
| Symbol | NDUFS7 |
|---|---|
| Full Name | NADH:Ubiquinone Oxidoreductase Core Subunit S7 |
| Gene Type | protein-coding |
| Chromosomal Location | 19p13.3 |
| NCBI Gene ID | 4729 ncbi.nlm.nih.gov/gene/4729 |
| Ensembl ID | ENSG00000115286 |
| UniProt ID | O75251 |
| OMIM ID | 601825 |
| HGNC ID | 7711 |
| Aliases | CI-20, PSST, CI-20kD |
Description
NDUFS7 encodes a 20 kDa core subunit of mitochondrial NADH:ubiquinone oxidoreductase (complex I), the first enzyme of the electron transport chain. This nuclear-encoded protein is essential for complex I assembly and catalytic activity, transferring electrons from NADH to ubiquinone. Mutations in NDUFS7 impair oxidative phosphorylation, leading to mitochondrial encephalopathies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Leigh syndrome | Loss-of-function mutations reduce complex I activity, causing ATP depletion and neurodegeneration | ClinVar, OMIM |
| Mitochondrial complex I deficiency | Biallelic pathogenic variants disrupt complex I assembly or function | ClinVar, OMIM |
| GRACILE syndrome | Specific NDUFS7 variants associated with growth retardation, aminoaciduria, cholestasis, iron overload, lactic acidosis, and early death | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | High |
| Skeletal muscle | 10.8 | High |
| Liver | 8.2 | Medium |
| Brain | 7.9 | Medium |
| Kidney | 7.5 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 14.2 | High expression |
| HeLa | 11.0 | High expression |
| HepG2 | 9.5 | Medium expression |
| K-562 | 8.1 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.182G>A (p.Arg61His) | Missense | Rare | Reduced complex I activity; associated with Leigh syndrome |
| c.364G>A (p.Gly122Ser) | Missense | Rare | Impaired ubiquinone binding; mitochondrial complex I deficiency |
| c.434T>C (p.Leu145Pro) | Missense | Rare | Disrupts protein stability; Leigh syndrome |
Mutation functional classification
Loss of Function (LOF)
Most pathogenic NDUFS7 mutations are loss-of-function, reducing complex I activity and ATP production.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative effects described; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • NADH dehydrogenase (ubiquinone) activity | • mitochondrial electron transport |
| • NADH to ubiquinone | • mitochondrial inner membrane |
| • oxidation-reduction process | • respiratory chain complex I assembly |
Pathways
• Oxidative phosphorylation (KEGG: hsa00190)
• Respiratory electron transport (Reactome: R-HSA-611105)
• Complex I biogenesis (Reactome: R-HSA-6799198)
Protein Summary
NDUFS7 is a 213-amino acid protein (20 kDa) localized to the mitochondrial inner membrane as part of complex I. It contains a conserved PSST domain involved in ubiquinone binding and electron transfer. The protein is essential for the catalytic core of complex I; defects lead to mitochondrial dysfunction.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NDUFS7 Knockout HEK293 Cell Line | EDJ-KQ5321 | Human | 374291 | Details Get a Quote |
| NDUFS7 Knockout A-549 Cell Line | EDJ-KQ28403 | Human | 374291 | Details Get a Quote |
| NDUFS7 Knockout HCT 116 Cell Line | EDJ-KQ28404 | Human | 374291 | Details Get a Quote |
| NDUFS7 Knockout HeLa Cell Line | EDJ-KQ28405 | Human | 374291 | Details Get a Quote |
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