Coa7 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.
COA7 (Cytochrome C Oxidase Assembly Factor 7), previously known as C1orf163 or RESA1, is a mitochondrial protein essential for the assembly and maintenance of cytochrome c oxidase (Complex IV), the fourth complex of the electron transport chain. The COA7 gene is located on chromosome 1p32.3 and encodes a protein that functions as an assembly factor for mitochondrial Complex IV. Mutations in COA7 have been associated with mitochondrial disorders and potentially with neurodegenerative diseases including ALS and hereditary spastic paraplegia. [1]
| Property | Value | [2]
|----------|-------| [3]
| Official Symbol | COA7 | [4]
| Official Full Name | Cytochrome C Oxidase Assembly Factor 7 | [5]
| Chromosomal Location | 1p32.3 | [6]
| NCBI Gene ID | 56504 | [7]
| OMIM | 615623 |
| Ensembl ID | ENSG00000147403 |
| UniProt ID | Q9BUK6 |
| Protein Length | ~269 amino acids |
| Cellular Compartment | Mitochondrial matrix |
COA7 contains several functional features:
Complex IV Assembly
Mitochondrial Protein Quality Control
Copper Delivery
COA7 exhibits tissue-specific expression:
COA7 participates in mitochondrial function:
COA7 dysfunction may contribute to neurodegeneration through:
Therapeutic strategies for COA7-related conditions include:
Key questions about COA7:
Coa7 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.
The study of Coa7 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.
COA7 mutations cause mitochondrial complex IV deficiency (2017). American Journal of Human Genetics. 2017. ↩︎
Mitochondrial dysfunction in ALS (2020). Nature Reviews Neuroscience. 2020. ↩︎
Complex IV assembly factors in neurodegeneration (2019). Cellular and Molecular Life Sciences. 2019. ↩︎
Mitochondrial dynamics in Parkinson's disease (2021). Nature Reviews Neurology. 2021. ↩︎
Oxidative stress in neurodegenerative diseases (2020). Antioxidants & Redox Signaling. 2020. ↩︎
Therapeutic targeting of mitochondria in neurodegeneration (2019). Nature Reviews Drug Discovery. 2019. ↩︎
Mitochondrial biogenesis and neural stem cells (2018). Cell Stem Cell. 2018. ↩︎