Identity
HGNC
LOCATION
6q16.1
LOCUSID
ALIAS
C6orf66,HRPAP20,HSPC125,MC1DN15,My013,bA22L21.1
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 29078
MIM: 611776
HGNC: 21034
Ensembl: ENSG00000123545
Variants:
dbSNP: 29078
ClinVar: 29078
TCGA: ENSG00000123545
COSMIC: NDUFAF4
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000123545 | ENST00000316149 | Q9P032 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37787384 | 2024 | A genetic variant in gene NDUFAF4 confers the risk of non-small cell lung cancer by perturbing hsa-miR-215 binding. | 0 |
| 37787384 | 2024 | A genetic variant in gene NDUFAF4 confers the risk of non-small cell lung cancer by perturbing hsa-miR-215 binding. | 0 |
| 32949790 | 2020 | Complex I deficiency, due to NDUFAF4 mutations, causes severe mitochondrial dysfunction and is associated to early death and dysmorphia. | 1 |
| 32949790 | 2020 | Complex I deficiency, due to NDUFAF4 mutations, causes severe mitochondrial dysfunction and is associated to early death and dysmorphia. | 1 |
| 28853723 | 2017 | NDUFAF4 variants are associated with Leigh syndrome and cause a specific mitochondrial complex I assembly defect. | 13 |
| 28853723 | 2017 | NDUFAF4 variants are associated with Leigh syndrome and cause a specific mitochondrial complex I assembly defect. | 13 |
| 20877624 | 2010 | Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. | 20 |
| 20877624 | 2010 | Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. | 20 |
| 19352385 | 2009 | Lack of complex I is associated with oncocytic thyroid tumours. | 27 |
| 19463981 | 2009 | Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease. | 58 |
| 19352385 | 2009 | Lack of complex I is associated with oncocytic thyroid tumours. | 27 |
| 19463981 | 2009 | Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease. | 58 |
| 18179882 | 2008 | C6ORF66 is an assembly factor of mitochondrial complex I. | 55 |
| 18179882 | 2008 | C6ORF66 is an assembly factor of mitochondrial complex I. | 55 |
| 17001319 | 2007 | HRPAP20: a novel calmodulin-binding protein that increases breast cancer cell invasion. | 9 |
Citation
Dessen P
NDUFAF4 (NADH:ubiquinone oxidoreductase complex assembly factor 4)
Atlas Genet Cytogenet Oncol Haematol. 2009-03-01
Online version: http://atlasgeneticsoncology.org/gene/50807/ndufaf4
