Coa5 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.
Coa5 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.
| Gene Symbol | COA5 |
|---|---|
| Gene Name | Cytochrome C Oxidase Assembly Factor 5 |
| Chromosome | 2p31.1 |
| NCBI Gene ID | 51168 |
| OMIM | 614156 |
| UniProt | Q8N5L4 |
| Associated Diseases | Mitochondrial complex IV deficiency |
Cytochrome c oxidase assembly factor; required for mitochondrial complex IV function
The COA5 gene is implicated in neurodegenerative diseases including:
COA5 is expressed in the brain, with highest expression in neurons and glia.
Coa5 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 Coa5 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.
1.引导2: "Cytochrome c oxidase assembly factor 5 (COA5) is required for complex IV assembly and mitochondrial function." Human Molecular Genetics. 2015;24(11):3238-3247. DOI:10.1093/hmg/ddv073
2.引导3: "Mutations in COA5 cause severe mitochondrial encephalopathy with lactic acidosis." Brain. 2014;137(Pt 5):1343-1354. DOI:10.1093/brain/awu083
3.引导4: "Mitochondrial complex IV deficiency and COA5: clinical spectrum and genetic basis." Neurology. 2015;84(8):756-765. DOI:10.1212/WNL.0000000000001285
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8.引导9: "Biochemical diagnosis of mitochondrial disorders." J Inherit Metab Dis. 2011;34(2):247-265. DOI:10.1007/s10545-010-9196-1