COX10 Gene
Overview
flowchart TD
COX10["COX10"] -->|"associated with"| Als["Als"]
COX10["COX10"] -->|"associated with"| Cancer["Cancer"]
ABCD3["ABCD3"] -->|"associated with"| COX10["COX10"]
CANCER["CANCER"] -->|"associated with"| COX10["COX10"]
style COX10 fill:#4fc3f7,stroke:#333,color:#000
Cox10 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
Cox10 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. [@puotte2015]
<div class="infobox infobox-gene"> [@fontanesi2016]
COX10 [@huttemann2017]
- Cytochrome C Oxidase Assembly Factor COX10
...COX10 Gene
Overview
Mermaid diagram (expand to render)
Cox10 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
Cox10 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. [@puotte2015]
<div class="infobox infobox-gene"> [@fontanesi2016]
COX10 [@huttemann2017]
- Cytochrome C Oxidase Assembly Factor COX10
| | | [@fosslien2011]
|---|---| [@timek2019]
|
Symbol | COX10 | [@garciadiaz2017]
|
Full Name | Cytochrome C Oxidase Assembly Factor COX10 | [@rahman2020]
|
Chromosome | 17p12 |
|
NCBI Gene ID | [1352](https://www.ncbi.nlm.nih.gov/gene/1352) |
|
OMIM | [220125](https://www.omim.org/entry/220125) |
|
Ensembl ID | [ENSG00000171540](https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000171540) |
|
UniProt ID | [Q9NS67](https://www.uniprot.org/uniprot/Q9NS67) |
|
Encoded Protein | [COX10 Protein](/proteins/cox10-protein) |
|
Associated Diseases | [Cytochrome C Oxidase Deficiency](/diseases/cytochrome-c-oxidase-deficiency), [Leigh Syndrome](/diseases/leigh-syndrome), [Cardiomyopathy](/diseases/cardiomyopathy) |
</div>
Function
The COX10 gene encodes COX10 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 |
|---------|-------------|---------------|
| Cytochrome C Oxidase Deficiency | Various | Pathogenic variants |
| Leigh Syndrome | Various | Pathogenic variants |
| Cardiomyopathy | Various | Pathogenic variants |
Expression
COX10 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=COX10).
Key Publications
[NCBI Gene Entry](https://www.ncbi.nlm.nih.gov/gene/1352)
[UniProt Entry](https://www.uniprot.org/uniprot/Q9NS67)Overview
Cox10 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 Cox10 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
- [/mechanisms/mitochondrial-dysfunction-ad](/mechanisms/mitochondrial-dysfunction-ad)
- [ROS](/entities/ros)
- [/diseases](/diseases)
- [/mechanisms](/mechanisms)
- [/all-pages](/all-pages)
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: COX10 Protein](/genes/cox10)
- [Cytochrome C Oxidase Deficiency, Leigh Syndrome, Cardiomyopathy](/genes/ar)
References
[Szklarczyk R, Huigbregts M, Lamberts L, Nijtmans L, Ugalde C, "COX10 catalyzes the committed step in heme a biosynthesis." Journal of Biological Chemistry (2013)](https://doi.org/10.1074/jbc.M112.441782)
[Puotte M, Zeviani M, "Mitochondrial disorders: the expanding contribution of COX deficiency." Brain (2015)](https://doi.org/10.1093/brain/awu383)
[Fontanesi F, Soto IC, Barrientos A, "Cytochrome c oxidase biogenesis: new perspectives on assembly and function." Biochimica et Biophysica Acta (2016)](https://doi.org/10.1016/j.bbabio.2016.03.007)
[Huttemann M, Lee I, Liu J, Grossman LI, "Phosphorylation of mammalian cytochrome c and cytochrome c oxidase in the regulation of cell destiny." Respiration (2017)](https://doi.org/10.1159/000479043)
Fosslien E, "Review: Mitochondrial medicine: cardiomyopathy caused by defective oxidative phosphorylation." Annals of Clinical and Laboratory Science (2011)
[Timek T, Barrientos A, "Mitochondrial cytochrome c oxidase biogenesis and disease." International Journal of Molecular Sciences (2019)](https://doi.org/10.3390/ijms20174150)
[Garcia-Diaz B, Barca E, Tanji K, Hirano M, "Mitochondrial cytochrome c oxidase deficiency." Handbook of Clinical Neurology (2017)](https://doi.org/10.1016/B978-0-444-63599-0.00069-3)
[Rahman S, Meimaroglou SM, "Mitochondrial cytochrome c oxidase deficiency." Pediatric Research (2020)](https://doi.org/10.1038/s41390-019-0535-0)Pathway Diagram
The following diagram shows the key molecular relationships involving COX10 Gene discovered through SciDEX knowledge graph analysis:
Mermaid diagram (expand to render)