Sco1 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.
Sco1 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 SCO1 | |
|---|---|
| Gene Symbol | SCO1 |
| Full Name | Cytochrome c Oxidase Assembly Factor SCO1 |
| Chromosome | 17p13.1 |
| NCBI Gene ID | 63931 |
| OMIM | 603644 |
| Ensembl ID | ENSG00000120265 |
| UniProt ID | P28331 |
| Associated Diseases | Leigh Syndrome, Cardiomyopathy, Hepatic Failure |
SCO1 encodes a mitochondrial copper chaperone that delivers copper to the CuA site of cytochrome c oxidase (complex IV). The protein is essential for proper complex IV assembly and function.
Expressed in tissues with high mitochondrial content, particularly liver and heart.
| Disease | Role | Mechanism |
|---|---|---|
| Leigh Syndrome | Causative | Severe complex IV deficiency |
| Cardiomyopathy | Causative | Impaired cardiac function |
Sco1 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 Sco1 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.