Sco2 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.
Sco2 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.
| Cytochrome c Oxidase Assembly Factor SCO2 | |
|---|---|
| Gene Symbol | SCO2 |
| Full Name | Cytochrome c Oxidase Assembly Factor SCO2 |
| Chromosome | 22q13.33 |
| NCBI Gene ID | 6309 |
| OMIM | 604272 |
| Ensembl ID | ENSG00000130489 |
| UniProt ID | O43819 |
| Associated Diseases | Leigh Syndrome, Cardiomyopathy, Myopathy |
SCO2 encodes a mitochondrial copper chaperone essential for cytochrome c oxidase assembly. The protein works with SCO1 to deliver copper to the CuA site of complex IV. SCO2 is particularly important in muscle tissue.
Expressed in tissues with high energy requirements, particularly heart and skeletal muscle.
| Disease | Role | Mechanism |
|---|---|---|
| Leigh Syndrome | Causative | Severe complex IV deficiency |
| Cardiomyopathy | Causative | Fatal infantile cardiomyopathy |
Sco2 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 Sco2 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.