NDUFAF6
NADH:Ubiquinone Oxidoreductase Complex Assembly Factor 6
Gene Information Card
| Symbol | NDUFAF6 |
|---|---|
| Full Name | NADH:Ubiquinone Oxidoreductase Complex Assembly Factor 6 |
| Gene Type | Protein coding |
| Chromosomal Location | 8q22.1 |
| NCBI Gene ID | 7157 ncbi.nlm.nih.gov/gene/7157 |
| Ensembl ID | ENSG00000104879 |
| UniProt ID | Q9P032 |
| OMIM ID | 612392 |
| HGNC ID | 28622 |
| Aliases | C20orf7, bA16L21.2.1, MC1DN7 |
Description
NDUFAF6 (NADH:Ubiquinone Oxidoreductase Complex Assembly Factor 6) encodes a mitochondrial protein essential for the assembly of complex I (NADH:ubiquinone oxidoreductase) of the mitochondrial respiratory chain. The protein is localized to the mitochondrial matrix and facilitates the incorporation of the N-module into the complex I holoenzyme. Mutations in NDUFAF6 cause mitochondrial complex I deficiency, nuclear type 7 (MC1DN7), 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 7 (MC1DN7) | Loss-of-function mutations impair complex I assembly, reducing ATP production and increasing oxidative stress. | OMIM #612392; ClinVar; multiple case reports. |
| Leigh syndrome | Defective complex I leads to bilateral necrotic lesions in basal ganglia and brainstem. | OMIM #256000; ClinVar; literature. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Skeletal Muscle | 10.8 | Medium |
| Liver | 8.2 | Medium |
| Brain | 7.6 | Medium |
| Kidney | 6.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.2 | High expression |
| HEK293 | 11.5 | Medium expression |
| K562 | 9.8 | Medium expression |
| HepG2 | 8.1 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.334C>T (p.Arg112*) | Nonsense | Rare | Loss of function; truncation of protein. |
| c.455G>A (p.Arg152Gln) | Missense | Rare | Impaired complex I assembly. |
| c.1A>G (p.Met1?) | Start loss | Rare | Complete loss of translation. |
Mutation functional classification
Loss of Function (LOF)
Most reported mutations are loss-of-function, leading to 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)
| • mitochondrion (GO:0005739) | • mitochondrial inner membrane (GO:0005743) |
| • mitochondrial respiratory chain complex I assembly (GO:0032981) | • NADH dehydrogenase (ubiquinone) activity (GO:0008137) |
Pathways
• Mitochondrial complex I assembly (Reactome: R-HSA-6799198)
• Respiratory electron transport (Reactome: R-HSA-611105)
Protein Summary
NDUFAF6 is a 20 kDa mitochondrial matrix protein that acts as a chaperone during the late stages of complex I assembly. It specifically mediates the attachment of the N-module (containing the NADH-binding site) to the pre-assembled membrane arm. The protein contains a conserved domain of unknown function (DUF1850) and is essential for proper electron transfer from NADH to ubiquinone.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NDUFAF6 Knockout HEK293 Cell Line | EDJ-KQ9392 | Human | 137682 | Details Get a Quote |
| NDUFAF6 Knockout A-549 Cell Line | EDJ-KQ36041 | Human | 137682 | Details Get a Quote |
| NDUFAF6 Knockout HCT 116 Cell Line | EDJ-KQ36042 | Human | 137682 | Details Get a Quote |
| NDUFAF6 Knockout HeLa Cell Line | EDJ-KQ36043 | Human | 137682 | Details Get a Quote |
