NDUFA7
NADH:Ubiquinone Oxidoreductase Subunit A7
Gene Information Card
| Symbol | NDUFA7 |
|---|---|
| Full Name | NADH:ubiquinone oxidoreductase subunit A7 |
| Gene Type | Protein coding |
| Chromosomal Location | 19p13.2 |
| NCBI Gene ID | 4701 ncbi.nlm.nih.gov/gene/4701 |
| Ensembl ID | ENSG00000104879 |
| UniProt ID | O95182 |
| OMIM ID | 601509 |
| HGNC ID | 7691 |
| Aliases | B14.5a, CI-B14.5a, NADH-ubiquinone oxidoreductase B14.5a subunit |
Description
NDUFA7 encodes a 14.5 kDa accessory subunit of mitochondrial NADH:ubiquinone oxidoreductase (complex I). Complex I is the first enzyme of the electron transport chain, transferring electrons from NADH to ubiquinone and contributing to the proton gradient across the inner mitochondrial membrane. NDUFA7 is essential for complex I assembly and stability.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial complex I deficiency, nuclear type 1 | Loss-of-function mutations impair complex I assembly, reducing ATP production and causing oxidative stress | ClinVar, OMIM |
| Leigh syndrome | Biallelic NDUFA7 variants lead to complex I dysfunction, resulting in neurodegeneration | ClinVar, OMIM |
| Cardiomyopathy, mitochondrial | Complex I deficiency due to NDUFA7 mutations can cause hypertrophic cardiomyopathy | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Skeletal muscle | 10.8 | Medium |
| Liver | 8.2 | Medium |
| Brain | 7.5 | Medium |
| Kidney | 6.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.3 | High expression |
| HeLa | 11.7 | Moderate expression |
| HepG2 | 9.5 | Moderate expression |
| SH-SY5Y | 8.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.206G>A (p.Arg69His) | Missense | <0.01% | Reduced complex I activity; associated with Leigh syndrome |
| c.287_288del (p.Leu96fs) | Frameshift | <0.01% | Loss of function; causes mitochondrial complex I deficiency |
| c.1A>G (p.Met1?) | Start loss | <0.01% | Complete loss of protein; severe phenotype |
Mutation functional classification
Loss of Function (LOF)
Frameshift and start-loss mutations abolish NDUFA7 protein, leading to complex I assembly failure.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • NADH dehydrogenase (ubiquinone) activity | • mitochondrial respiratory chain complex I assembly |
| • mitochondrial inner membrane | • electron transport chain |
Pathways
• Oxidative phosphorylation (KEGG:00190)
• Respiratory electron transport (Reactome:R-HSA-611105)
• Complex I biogenesis (Reactome:R-HSA-6799198)
Protein Summary
NDUFA7 is a 14.5 kDa accessory subunit of mitochondrial complex I. It localizes to the inner mitochondrial membrane and is required for proper assembly and stability of the holoenzyme. The protein contains a conserved domain of unknown function (DUF) and interacts with other complex I subunits. Mutations in NDUFA7 impair complex I activity, leading to mitochondrial diseases such as Leigh syndrome and cardiomyopathy.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NDUFA7 Knockout HEK293 Cell Line | EDJ-KQ50467 | Human | 4701 | Details Get a Quote |
| NDUFA7 Knockout HeLa Cell Line | EDJ-KQ53970 | Human | 4701 | Details Get a Quote |
| NDUFA7 Knockout A-549 Cell Line | EDJ-KQ62459 | Human | 4701 | Details Get a Quote |
| NDUFA7 Knockout HCT 116 Cell Line | EDJ-KQ70927 | Human | 4701 | Details Get a Quote |
