NDUFS4 Gene
Overview
flowchart TD
NDUFS4["NDUFS4"] -->|"associated with"| Alzheimer["Alzheimer"]
NDUFS4["NDUFS4"] -->|"biomarker for"| HSPE1["HSPE1"]
NDUFS4["NDUFS4"] -->|"biomarker for"| HSP90AA1["HSP90AA1"]
NDUFS4["NDUFS4"] -->|"biomarker for"| OPTN["OPTN"]
NDUFS4["NDUFS4"] -->|"biomarker for"| GENES["GENES"]
NDUFS4["NDUFS4"] -->|"associated with"| ALZHEIMER_S_DISEASE["ALZHEIMER'S DISEASE"]
NDUFS4["NDUFS4"] -->|"associated with"| MICRORNAS["MICRORNAS"]
NDUFS4["NDUFS4"] -->|"associated with"| IMMUNE_INFILTRATION["IMMUNE INFILTRATION"]
NDUFS4["NDUFS4"] -->|"associated with"| Microrna["Microrna"]
COX15["COX15"] -->|"inhibits"| NDUFS4["NDUFS4"]
COX4I1["COX4I1"] -->|"inhibits"| NDUFS4["NDUFS4"]
COX7A1["COX7A1"] -->|"inhibits"| NDUFS4["NDUFS4"]
COX8A["COX8A"] -->|"inhibits"| NDUFS4["NDUFS4"]
NDUFA12["NDUFA12"] -->|"inhibits"| NDUFS4["NDUFS4"]
style NDUFS4 fill:#4fc3f7,stroke:#333,color:#000
Ndufs4 Gene plays an important role in the study of neurodegenerative diseases. This page provides comprehensive information about this topic, including its mechanisms, significance in disease processes, and therapeutic implications.
Introduction
Ndufs4 Gene is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes. [@koopman2010]
<div class="infobox infobox-gene"> [@brandt2016]
NDUFS4 [@liu2021]
- NADH:Ubiquinone Oxidoreductase Core Subunit S4
...NDUFS4 Gene
Overview
Mermaid diagram (expand to render)
Ndufs4 Gene plays an important role in the study of neurodegenerative diseases. This page provides comprehensive information about this topic, including its mechanisms, significance in disease processes, and therapeutic implications.
Introduction
Ndufs4 Gene is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes. [@koopman2010]
<div class="infobox infobox-gene"> [@brandt2016]
NDUFS4 [@liu2021]
- NADH:Ubiquinone Oxidoreductase Core Subunit S4
| | | [@wallace2010]
|---|---| [@smeitink2012]
|
Symbol | NDUFS4 | [@mimaki2012]
|
Full Name | NADH:Ubiquinone Oxidoreductase Core Subunit S4 | [@giachin2016]
|
Chromosome | 5q11.2 |
|
NCBI Gene ID | [4731](https://www.ncbi.nlm.nih.gov/gene/4731) |
|
OMIM | [602797](https://www.omim.org/entry/602797) |
|
Ensembl ID | [ENSG00000168907](https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000168907) |
|
UniProt ID | [O43920](https://www.uniprot.org/uniprot/O43920) |
|
Encoded Protein | [NDUFS4 Protein](/proteins/ndufs4-protein) |
|
Associated Diseases | [Mitochondrial Complex I Deficiency](/diseases/mitochondrial-complex-i-deficiency), [Leigh Syndrome](/diseases/leigh-syndrome), [Neurodegeneration](/diseases/neurodegeneration) |
</div>
Function
The NDUFS4 gene encodes NDUFS4 Protein, a protein involved in various cellular processes relevant to neuronal function and survival. This gene is implicated in the pathogenesis of several neurodegenerative diseases.
Disease Associations
| Disease | Inheritance | Key Mutations |
|---------|-------------|---------------|
| Mitochondrial Complex I Deficiency | Various | Pathogenic variants |
| Leigh Syndrome | Various | Pathogenic variants |
| Neurodegeneration | Various | Pathogenic variants |
Expression
NDUFS4 is expressed in various brain regions, with notable expression in:
- Cerebral [cortex](/brain-regions/cortex)
- [Hippocampus](/brain-regions/hippocampus)
- Basal ganglia
- [Cerebellum](/brain-regions/cerebellum)
Expression data is available from the [Allen Human Brain Atlas](https://human.brain-map.org/microarray/search/show?search_term=NDUFS4).
Key Publications
[NCBI Gene Entry](https://www.ncbi.nlm.nih.gov/gene/4731)
[UniProt Entry](https://www.uniprot.org/uniprot/O43920)Overview
Ndufs4 Gene plays an important role in the study of neurodegenerative diseases. This page provides comprehensive information about this topic, including its mechanisms, significance in disease processes, and therapeutic implications.
Background
The study of Ndufs4 Gene has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.
Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.
See Also
- [Parkinson's Disease](/diseases/parkinsons-disease)
- [Alpha-Synuclein](/mechanisms/alpha-synuclein)
- [/mechanisms/mitochondrial-dysfunction-ad](/mechanisms/mitochondrial-dysfunction-ad)
- [ROS](/entities/ros)
- [/mechanisms/genetics](/mechanisms/genetics)
External Links
- [PubMed](https://pubmed.ncbi.nlm.nih.gov/) - Biomedical literature
- [Alzheimer's Disease Neuroimaging Initiative](https://adni.loni.usc.edu/) - Research data
- [Allen Brain Atlas](https://brain-map.org/) - Brain gene expression data
Cross-Links
- [Protein: NDUFS4 Protein](/genes/ndufs4)
- [Mitochondrial Complex I Deficiency, Leigh Syndrome, Neurodegeneration](/diseases/neurodegeneration)
References
[Papa S, Petruzzella V, Scacco S, Sardanelli AM, Vergari R, Panetta D, Smigiel R, "Pathogenetic mechanisms of mitochondrial complex I deficiency." Journal of Bioenergetics and Biomembranes (2014)](https://doi.org/10.1007/s10863-014-9561-0)
[Koopman WJ, Nijtmans LG, Dieteren CE, Roestenberg P, Valsecchi F, Smeitink JA, Willems PH, "Mitochondrial network complexity and NADH dehydrogenase complex I activity are decreased in human fibroblasts." Cellular and Molecular Life Sciences (2010)](https://doi.org/10.1007/s00018-010-0411-x)
[Brandt U, "Energy transduction by the mitochondrial respiratory chain." Annual Review of Biochemistry (2016)](https://doi.org/10.1146/annurev-biochem-060815-014432)
[Liu J, Lv F, Chen C, Huang Z, Luo H, Zhang Y, "Mitochondrial complex I deficiency and Parkinson's disease: from molecular mechanisms to therapeutic strategies." Neurochemistry International (2021)](https://doi.org/10.1016/j.neuint.2021.105017)
[Wallace DC, "Mitochondrial DNA mutations in disease and aging." Nature Reviews Genetics (2010)](https://doi.org/10.1038/nrg2831)
[Smeitink JA, van den Heuvel LW, Koene S, Nijtmans LG, Ugalde C, Willems PH, "Molecular basis of mitochondrial complex I deficiency." Lancet Neurology (2012)](https://doi.org/10.1016/S1474-4422(12)
[Mimaki M, Wang X, McKenzie M, Thorburn DR, Ryan MT, "Understanding mitochondrial complex I deficiency in Leigh syndrome." Journal of Inherited Metabolic Disease (2012)](https://doi.org/10.1007/s10545-011-9431-4)
[Giachin G, Bouverot R, Degliesposti G, Sonkina O, Ilari A, "Assembly of the mitochondrial complex I assembly factor NDUFS7." Journal of Molecular Biology (2016)](https://doi.org/10.1016/j.jmb.2016.04.020)Pathway Diagram
The following diagram shows the key molecular relationships involving NDUFS4 Gene discovered through SciDEX knowledge graph analysis:
Mermaid diagram (expand to render)