NDUFAF4
NADH:ubiquinone oxidoreductase complex assembly factor 4
Gene Information Card
| Symbol | NDUFAF4 |
|---|---|
| Full Name | NADH:ubiquinone oxidoreductase complex assembly factor 4 |
| Gene Type | protein-coding |
| Chromosomal Location | 6q16.1 |
| NCBI Gene ID | 29078 ncbi.nlm.nih.gov/gene/29078 |
| Ensembl ID | ENSG00000112297 |
| UniProt ID | Q9P032 |
| OMIM ID | 611776 |
| HGNC ID | 29834 |
| Aliases | HRPAP20, C6orf66, MGC11134 |
Description
NDUFAF4 (NADH:ubiquinone oxidoreductase complex assembly factor 4) encodes a protein involved in the assembly of mitochondrial complex I (NADH:ubiquinone oxidoreductase). The protein localizes to the mitochondrial inner membrane and is essential for the early stages of complex I biogenesis. Mutations in NDUFAF4 cause mitochondrial complex I deficiency, 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 1 (MC1DN1) | Loss-of-function mutations impair complex I assembly, reducing ATP production and increasing oxidative stress. | OMIM #252010; ClinVar pathogenic variants |
| Leigh syndrome | Biallelic NDUFAF4 mutations lead to complex I deficiency, causing neurodegeneration and characteristic brain lesions. | Case reports in NCBI PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Skeletal muscle | 8.3 | Medium |
| Liver | 6.1 | Low |
| Brain | 7.8 | Medium |
| Kidney | 9.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| HeLa | 11.4 | Medium expression |
| SH-SY5Y | 13.0 | Medium-high expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.194T>C (p.Leu65Pro) | Missense | <0.01% | Loss of function; impaired complex I assembly |
| c.287_288delAG (p.Gln96Argfs*3) | Frameshift | <0.01% | Loss of function; truncated protein |
| c.1A>G (p.Met1?) | Start loss | <0.01% | Loss of function; no protein synthesis |
Mutation functional classification
Loss of Function (LOF)
Most reported NDUFAF4 mutations are loss-of-function, leading to complex I deficiency.
Gain of Function (GOF)
No evidence of gain-of-function mutations.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • mitochondrion (GO:0005739) | • mitochondrial inner membrane (GO:0005743) |
| • 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
NDUFAF4 is a 175-amino-acid mitochondrial inner membrane protein that acts as an assembly factor for complex I. It interacts with other assembly factors and subunits to facilitate the incorporation of the NADH dehydrogenase module. Defects in NDUFAF4 lead to complex I deficiency, a common cause of mitochondrial disease.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NDUFAF4 Knockout HEK293 Cell Line | EDJ-KQ8973 | Human | 29078 | Details Get a Quote |
| NDUFAF4 Knockout HCT 116 Cell Line | EDJ-KQ35382 | Human | 29078 | Details Get a Quote |
| NDUFAF4 Knockout HeLa Cell Line | EDJ-KQ35383 | Human | 29078 | Details Get a Quote |
| NDUFAF4 Knockout A-549 Cell Line | EDJ-KQ64575 | Human | 29078 | Details Get a Quote |
