Ndufs7 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
Ndufs7 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]
NDUFS7 [@liu2021]
NADH:Ubiquinone Oxidoreductase Core Subunit S7
| | | [@wallace2010] |---|---| [@smeitink2012] | Symbol | NDUFS7 | [@mimaki2012] | Full Name | NADH:Ubiquinone Oxidoreductase Core Subunit S7 | [@giachin2016] | Chromosome | 19p13.3 | | NCBI Gene ID | [374291](https://www.ncbi.nlm.nih.gov/gene/374291) | | OMIM | [601918](https://www.omim.org/entry/601918) | | Ensembl ID | [ENSG00000115286](https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000115286) | | UniProt ID | [Q9Y5J9](https://www.uniprot.org/uniprot/Q9Y5J9) | | Encoded Protein | [NDUFS7 Protein](/proteins/ndufs7-protein) | | Associated Diseases | [Mitochondrial Complex I Deficiency](/diseases/mitochondrial-complex-i-deficiency), [Leigh Syndrome](/diseases/leigh-syndrome), [Parkinson's Disease](/diseases/parkinsons-disease-disease) |
</div>
Function
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NDUFS7 Gene
Overview
Ndufs7 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
Ndufs7 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]
NDUFS7 [@liu2021]
NADH:Ubiquinone Oxidoreductase Core Subunit S7
| | | [@wallace2010] |---|---| [@smeitink2012] | Symbol | NDUFS7 | [@mimaki2012] | Full Name | NADH:Ubiquinone Oxidoreductase Core Subunit S7 | [@giachin2016] | Chromosome | 19p13.3 | | NCBI Gene ID | [374291](https://www.ncbi.nlm.nih.gov/gene/374291) | | OMIM | [601918](https://www.omim.org/entry/601918) | | Ensembl ID | [ENSG00000115286](https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000115286) | | UniProt ID | [Q9Y5J9](https://www.uniprot.org/uniprot/Q9Y5J9) | | Encoded Protein | [NDUFS7 Protein](/proteins/ndufs7-protein) | | Associated Diseases | [Mitochondrial Complex I Deficiency](/diseases/mitochondrial-complex-i-deficiency), [Leigh Syndrome](/diseases/leigh-syndrome), [Parkinson's Disease](/diseases/parkinsons-disease-disease) |
</div>
Function
The NDUFS7 gene encodes NDUFS7 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 | | Parkinson's Disease | Various | Pathogenic variants |
Expression
NDUFS7 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=NDUFS7).
Ndufs7 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 Ndufs7 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.
[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: NDUFS7 Protein](/genes/ndufs7)
[Mitochondrial Complex I Deficiency, Leigh Syndrome, Parkinson's Disease](/diseases/parkinsons-disease)
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 NDUFS7 Gene discovered through SciDEX knowledge graph analysis: