Cox10 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.
Cox10 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.
COX10
| Symbol | COX10 |
| Full Name | Cytochrome C Oxidase Assembly Factor COX10 |
| Chromosome | 17p12 |
| NCBI Gene ID | 1352 |
| OMIM | 220125 |
| Ensembl ID | ENSG00000171540 |
| UniProt ID | Q9NS67 |
| Encoded Protein | COX10 Protein |
| Associated Diseases | Cytochrome C Oxidase Deficiency, Leigh Syndrome, Cardiomyopathy |
The COX10 gene encodes COX10 Protein, a protein involved in various cellular processes relevant to neuronal function and survival. This gene is implicated in the pathogenesis of several neurodegenerative diseases.
| Disease | Inheritance | Key Mutations |
|---|---|---|
| Cytochrome C Oxidase Deficiency | Various | Pathogenic variants |
| Leigh Syndrome | Various | Pathogenic variants |
| Cardiomyopathy | Various | Pathogenic variants |
COX10 is expressed in various brain regions, with notable expression in:
Expression data is available from the Allen Human Brain Atlas.
Cox10 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 Cox10 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.
Szklarczyk R, Huigbregts M, Lamberts L, Nijtmans L, Ugalde C. "COX10 catalyzes the committed step in heme a biosynthesis." Journal of Biological Chemistry. 2013;288(5):3235-3246. DOI:10.1074/jbc.M112.441782
Puotte M, Zeviani M. "Mitochondrial disorders: the expanding contribution of COX deficiency." Brain. 2015;138(Pt 2):236-242. DOI:10.1093/brain/awu383
Fontanesi F, Soto IC, Barrientos A. "Cytochrome c oxidase biogenesis: new perspectives on assembly and function." Biochimica et Biophysica Acta. 2016;1857(8):1088-1100. DOI:10.1016/j.bbabio.2016.03.007
Huttemann M, Lee I, Liu J, Grossman LI. "Phosphorylation of mammalian cytochrome c and cytochrome c oxidase in the regulation of cell destiny." Respiration. 2017;94(3):269-286. DOI:10.1159/000479043
Fosslien E. "Review: Mitochondrial medicine: cardiomyopathy caused by defective oxidative phosphorylation." Annals of Clinical and Laboratory Science. 2011;41(2):134-155.
Timek T, Barrientos A. "Mitochondrial cytochrome c oxidase biogenesis and disease." International Journal of Molecular Sciences. 2019;20(17):4150. DOI:10.3390/ijms20174150
Garcia-Diaz B, Barca E, Tanji K, Hirano M. "Mitochondrial cytochrome c oxidase deficiency." Handbook of Clinical Neurology. 2017;113:1581-1592. DOI:10.1016/B978-0-444-63599-0.00069-3
Rahman S, Meimaroglou SM. "Mitochondrial cytochrome c oxidase deficiency." Pediatric Research. 2020;87(1):32-40. DOI:10.1038/s41390-019-0535-0