Identity
HGNC
LOCATION
5q11.2
LOCUSID
ALIAS
AQDQ,CI-18,CI-18
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: 4724
MIM: 602694
HGNC: 7711
Ensembl: ENSG00000164258
Variants:
dbSNP: 4724
ClinVar: 4724
TCGA: ENSG00000164258
COSMIC: NDUFS4
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38266647 | 2024 | Direct neuronal reprogramming of NDUFS4 patient cells identifies the unfolded protein response as a novel general reprogramming hurdle. | 2 |
| 38266647 | 2024 | Direct neuronal reprogramming of NDUFS4 patient cells identifies the unfolded protein response as a novel general reprogramming hurdle. | 2 |
| 34849584 | 2022 | Ndufs4 knockout mouse models of Leigh syndrome: pathophysiology and intervention. | 25 |
| 34849584 | 2022 | Ndufs4 knockout mouse models of Leigh syndrome: pathophysiology and intervention. | 25 |
| 32335026 | 2020 | NDUFS4 deletion triggers loss of NDUFA12 in Ndufs4(-/-) mice and Leigh syndrome patients: A stabilizing role for NDUFAF2. | 22 |
| 33093004 | 2020 | Uniparental isodisomy as a cause of mitochondrial complex I respiratory chain disorder due to a novel splicing NDUFS4 mutation. | 6 |
| 32335026 | 2020 | NDUFS4 deletion triggers loss of NDUFA12 in Ndufs4(-/-) mice and Leigh syndrome patients: A stabilizing role for NDUFAF2. | 22 |
| 33093004 | 2020 | Uniparental isodisomy as a cause of mitochondrial complex I respiratory chain disorder due to a novel splicing NDUFS4 mutation. | 6 |
| 31206022 | 2019 | BAP31 regulates mitochondrial function via interaction with Tom40 within ER-mitochondria contact sites. | 58 |
| 31206022 | 2019 | BAP31 regulates mitochondrial function via interaction with Tom40 within ER-mitochondria contact sites. | 58 |
| 27671926 | 2017 | A novel NDUFS4 frameshift mutation causes Leigh disease in the Hutterite population. | 9 |
| 27671926 | 2017 | A novel NDUFS4 frameshift mutation causes Leigh disease in the Hutterite population. | 9 |
| 27079373 | 2016 | Ndufs4 related Leigh syndrome: A case report and review of the literature. | 26 |
| 27079373 | 2016 | Ndufs4 related Leigh syndrome: A case report and review of the literature. | 26 |
| 24020637 | 2014 | Functional characterization of the c.462delA mutation in the NDUFS4 subunit gene of mitochondrial complex I. | 1 |
Citation
Dessen P
NDUFS4 (NADH:ubiquinone oxidoreductase subunit S4)
Atlas Genet Cytogenet Oncol Haematol. 2012-08-01
Online version: http://atlasgeneticsoncology.org/gene/52822/ndufs4
