NDUFAF2
NADH:ubiquinone oxidoreductase complex assembly factor 2
Gene Information Card
| Symbol | NDUFAF2 |
|---|---|
| Full Name | NADH:ubiquinone oxidoreductase complex assembly factor 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 5q11.2 |
| NCBI Gene ID | 91942 ncbi.nlm.nih.gov/gene/91942 |
| Ensembl ID | ENSG00000164171 |
| UniProt ID | Q8N183 |
| OMIM ID | 609653 |
| HGNC ID | 28087 |
| Aliases | Mimitin, NDUFA12L, bA22L21.1 |
Description
NDUFAF2 (NADH:ubiquinone oxidoreductase complex assembly factor 2) encodes a protein essential for the assembly of mitochondrial complex I (NADH:ubiquinone oxidoreductase). It acts as a chaperone facilitating the incorporation of the NDUFA12 subunit into the complex. Mutations in NDUFAF2 cause mitochondrial complex I deficiency, a severe multisystem disorder often presenting with Leigh syndrome.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial complex I deficiency, nuclear type 10 (MC1DN10) | Biallelic loss-of-function mutations in NDUFAF2 impair complex I assembly, reducing ATP production and causing oxidative stress. | OMIM #618233; multiple case reports (PMID: 19026398, 22981120) |
| Leigh syndrome | NDUFAF2 mutations lead to complex I deficiency, resulting in bilateral basal ganglia lesions and neurological decline. | ClinVar; case studies (PMID: 19026398) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Skeletal muscle | 10.8 | Medium |
| Liver | 8.2 | Low |
| Brain | 7.1 | Low |
| Kidney | 6.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.3 | High expression |
| HeLa | 12.1 | Medium expression |
| HepG2 | 9.4 | Medium expression |
| K562 | 6.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.22C>T (p.Arg8*) | Nonsense | <0.01% | Loss of function; premature truncation |
| c.287_288del (p.Leu96Profs*13) | Frameshift | <0.01% | Loss of function; truncated protein |
| c.167G>A (p.Trp56*) | Nonsense | <0.01% | Loss of function; premature stop |
Mutation functional classification
Loss of Function (LOF)
All reported pathogenic NDUFAF2 mutations are loss-of-function (nonsense, frameshift, splice-site), leading to absent or non-functional protein and impaired complex I assembly.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported; disease is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • mitochondrion (GO:0005739) | • mitochondrial respiratory chain complex I assembly (GO:0032981) |
| • mitochondrial electron transport (GO:0006120) |
Pathways
• Mitochondrial complex I assembly (Reactome: R-HSA-6799198)
• Respiratory electron transport (Reactome: R-HSA-611105)
Protein Summary
NDUFAF2 is a 156-amino acid mitochondrial protein localized to the matrix. It functions as an assembly factor for complex I, specifically mediating the late-stage incorporation of the NDUFA12 subunit. The protein contains a conserved domain (DUF2058) and is essential for proper complex I stability and activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NDUFAF2 Knockout HEK293 Cell Line | EDJ-KQ51903 | Human | 91942 | Details Get a Quote |
| NDUFAF2 Knockout HeLa Cell Line | EDJ-KQ57818 | Human | 91942 | Details Get a Quote |
| NDUFAF2 Knockout A-549 Cell Line | EDJ-KQ66314 | Human | 91942 | Details Get a Quote |
| NDUFAF2 Knockout HCT 116 Cell Line | EDJ-KQ74738 | Human | 91942 | Details Get a Quote |
