Identity
HGNC
LOCATION
11p11.2
LOCUSID
ALIAS
CI-30,MC1DN8
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: 4722
MIM: 603846
HGNC: 7710
Ensembl: ENSG00000213619
Variants:
dbSNP: 4722
ClinVar: 4722
TCGA: ENSG00000213619
COSMIC: NDUFS3
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37642954 | 2023 | NDUFB11 and NDUFS3 play a role in atherosclerosis and chronic stress. | 1 |
| 37642954 | 2023 | NDUFB11 and NDUFS3 play a role in atherosclerosis and chronic stress. | 1 |
| 33882309 | 2021 | NDUFS3 depletion permits complex I maturation and reveals TMEM126A/OPA7 as an assembly factor binding the ND4-module intermediate. | 13 |
| 33882309 | 2021 | NDUFS3 depletion permits complex I maturation and reveals TMEM126A/OPA7 as an assembly factor binding the ND4-module intermediate. | 13 |
| 33097395 | 2020 | Biallelic variants in two complex I genes cause abnormal splicing defects in probands with mild Leigh syndrome. | 3 |
| 33097395 | 2020 | Biallelic variants in two complex I genes cause abnormal splicing defects in probands with mild Leigh syndrome. | 3 |
| 29849492 | 2018 | Downregulation of DJ-1 Fails to Protect Mitochondrial Complex I Subunit NDUFS3 in the Testes and Contributes to the Asthenozoospermia. | 7 |
| 30140060 | 2018 | A Novel NDUFS3 mutation in a Chinese patient with severe Leigh syndrome. | 10 |
| 29849492 | 2018 | Downregulation of DJ-1 Fails to Protect Mitochondrial Complex I Subunit NDUFS3 in the Testes and Contributes to the Asthenozoospermia. | 7 |
| 30140060 | 2018 | A Novel NDUFS3 mutation in a Chinese patient with severe Leigh syndrome. | 10 |
| 28242297 | 2017 | Systems biology approach to late-onset Alzheimer's disease genome-wide association study identifies novel candidate genes validated using brain expression data and Caenorhabditis elegans experiments. | 27 |
| 29142257 | 2017 | Using a quantitative quadruple immunofluorescent assay to diagnose isolated mitochondrial Complex I deficiency. | 12 |
| 28242297 | 2017 | Systems biology approach to late-onset Alzheimer's disease genome-wide association study identifies novel candidate genes validated using brain expression data and Caenorhabditis elegans experiments. | 27 |
| 29142257 | 2017 | Using a quantitative quadruple immunofluorescent assay to diagnose isolated mitochondrial Complex I deficiency. | 12 |
| 25770168 | 2015 | Altered monocyte expression and expansion of non-classical monocyte subset in IgA nephropathy patients. | 20 |
Citation
Dessen P
NDUFS3 (NADH:ubiquinone oxidoreductase core subunit S3)
Atlas Genet Cytogenet Oncol Haematol. 2011-12-01
Online version: http://atlasgeneticsoncology.org/gene/52504/ndufs3
