NDUFA6
NADH:Ubiquinone Oxidoreductase Subunit A6
Gene Information Card
| Symbol | NDUFA6 |
|---|---|
| Full Name | NADH:Ubiquinone Oxidoreductase Subunit A6 |
| Gene Type | Protein coding |
| Chromosomal Location | 22q13.1 |
| NCBI Gene ID | 4700 ncbi.nlm.nih.gov/gene/4700 |
| Ensembl ID | ENSG00000184983 |
| UniProt ID | P56556 |
| OMIM ID | 602138 |
| HGNC ID | 7688 |
| Aliases | CI-B14, B14, NADH-ubiquinone oxidoreductase B14 subunit |
Description
NDUFA6 encodes a subunit of mitochondrial complex I (NADH:ubiquinone oxidoreductase), the first enzyme of the electron transport chain. This accessory subunit is essential for complex I assembly and stability. Mutations in NDUFA6 are associated with mitochondrial complex I deficiency, leading to a range of clinical phenotypes including Leigh syndrome and other neurodegenerative disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial complex I deficiency, nuclear type 33 (MC1DN33) | Biallelic loss-of-function mutations impair complex I assembly and activity, reducing ATP production and increasing oxidative stress. | OMIM #618253; ClinVar pathogenic variants |
| Leigh syndrome | Defective complex I leads to energy failure in the brainstem and basal ganglia, causing progressive neurodegeneration. | Case reports with NDUFA6 mutations (PubMed) |
| Encephalopathy, lactic acidosis, and stroke-like episodes (MELAS-like) | Mitochondrial dysfunction due to complex I deficiency can mimic MELAS phenotype. | Rare case reports |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 11.2 | Medium |
| Heart | 9.8 | Medium |
| Brain | 8.5 | Medium |
| Skeletal muscle | 7.3 | Low |
| Kidney | 6.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 12.1 | High expression |
| HeLa | 10.5 | Medium expression |
| SH-SY5Y | 9.2 | Medium expression |
| HepG2 | 8.7 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.184C>T (p.Arg62Ter) | Nonsense | Rare | Loss of function; leads to complex I deficiency |
| c.346G>A (p.Gly116Arg) | Missense | Rare | Impaired complex I assembly |
| c.1A>G (p.Met1?) | Start loss | Rare | Complete loss of protein expression |
Mutation functional classification
Loss of Function (LOF)
Biallelic loss-of-function mutations (nonsense, frameshift, start loss) cause mitochondrial complex I deficiency.
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: hsa00190)
• Respiratory electron transport (Reactome: R-HSA-611105)
Protein Summary
NDUFA6 is a 14 kDa accessory subunit of mitochondrial complex I (NADH:ubiquinone oxidoreductase). It is located in the inner mitochondrial membrane and is required for proper complex I assembly and stability. The protein contains a conserved domain that mediates interaction with other subunits. Defects in NDUFA6 lead to complex I deficiency, a common cause of mitochondrial disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NDUFA6 Knockout HEK293 Cell Line | EDJ-KQ5310 | Human | 4700 | Details Get a Quote |
| NDUFA6 Knockout A-549 Cell Line | EDJ-KQ28374 | Human | 4700 | Details Get a Quote |
| NDUFA6 Knockout HCT 116 Cell Line | EDJ-KQ28375 | Human | 4700 | Details Get a Quote |
| NDUFA6 Knockout HeLa Cell Line | EDJ-KQ28376 | Human | 4700 | Details Get a Quote |
