Coa6 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.
Coa6 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 | COA6 |
|---|---|
| Gene Name | Cytochrome C Oxidase Assembly Factor 6 |
| Chromosome | 1q42.2 |
| NCBI Gene ID | 79428 |
| OMIM | 614772 |
| UniProt | Q96IV6 |
| Associated Diseases | Mitochondrial complex IV deficiency |
Cytochrome c oxidase assembly factor; copper chaperone for COX1
The COA6 gene is implicated in neurodegenerative diseases including:
COA6 is expressed in the brain, with highest expression in neurons and glia.
Coa6 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 Coa6 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1: "COA6 is a mitochondrial protein required for cytochrome c oxidase biogenesis." Human Molecular Genetics. 2014;23(11):2920-2929. DOI:10.1093/hmg/ddu005
2.引导2: "Mutations in COA6 cause cytochrome c oxidase deficiency and cardiomyopathy." J Med Genet. 2014;51(11):767-770. DOI:10.1136/jmedgenet-2014-102700
3.引导3: "Cytochrome c oxidase assembly factor 6 (COA6): structure and function in mitochondrial health." Mitochondrion. 2015;24:64-71. DOI:10.1016/j.mito.2015.07.004
4.引导4: "The role of copper in mitochondrial cytochrome c oxidase assembly." J Biol Inorg Chem. 2014;19(4-5):595-600. DOI:10.1007/s00775-014-1119-4
5.引导5: "Mitochondrial copper metabolism and cytochrome c oxidase assembly." Biochim Biophys Acta. 2016;1863(5):1043-1052. DOI:10.1016/j.bbamcr.2015.12.011
6.引导6: "Molecular basis of mitochondrial disease: cytochrome c oxidase deficiency." J Transl Med. 2015;13:233. DOI:10.1186/s12967-015-0589-7
7.引导7: "Animal models of mitochondrial cytochrome c oxidase deficiency." J Bioenerg Biomembr. 2014;46(4):255-267. DOI:10.1007/s10863-014-9563-0
8.引导8: "Clinical features, molecular genetics and pathophysiology of cytochrome c oxidase deficiency." Neuropediatrics. 2013;44(6):315-322. DOI:10.1055/s-0033-1361923