Atox1 Copper Chaperone 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.
Atox1 Copper Chaperone is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes. [1]
| Attribute | Value | [2]
|-----------|-------| [3]
| Gene Symbol | ATOX1 | [4]
| Full Name | Antioxidant Protein 1 (Copper Chaperone) | [5]
| Chromosomal Location | 5q31.2 |
| NCBI Gene ID | 475 |
| Ensembl ID | ENSG00000137871 |
| UniProt ID | O00244 |
| Associated Diseases | Menkes disease (carrier), Wilson disease (modifier), Amyotrophic Lateral Sclerosis |
ATOX1 encodes a copper chaperone protein that plays a critical role in copper homeostasis. It is a small, soluble protein that facilitates the delivery of copper to the ATP7A and ATP7B copper-transporting ATPases.
ATOX1 has been implicated in ALS pathogenesis through its role in copper homeostasis and oxidative stress defense. Copper dysregulation is observed in ALS patients, and ATOX1 expression is altered in motor neurons affected by the disease.
While ATOX1 itself is not the primary cause of Menkes disease, it interacts with ATP7A, the gene mutated in Menkes disease. Variations in ATOX1 may modify the disease phenotype.
ATOX1 interacts with ATP7B, the copper-transporting ATPase mutated in Wilson disease. Modifiers in the ATOX1 gene may influence disease severity.
Copper homeostasis is critical for normal neuronal function. Dysregulation of copper metabolism has been implicated in:
ATOX1 is expressed in most tissues, with highest expression in:
In the brain, ATOX1 is expressed in:
Targeting copper homeostasis through ATOX1 modulation represents a potential therapeutic strategy for neurodegenerative diseases. Copper chelation therapy has been explored in ALS and other copper-associated disorders.
Atox1 Copper Chaperone 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 Atox1 Copper Chaperone 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.
ATOX1 expression data available from the Allen Brain Atlas:
Kaler, Menkes disease: Advances in genetics and treatment (2011). 2011. ↩︎
Miyayama et al. Copper chaperone ATOX1 in cellular copper homeostasis (2009). 2009. ↩︎
Bertinato et al. ATOX1 is a copper-dependent antioxidant enzyme (2008). 2008. ↩︎
Huster et al. ATOX1 provides copper for Wilson disease protein (2012). 2012. ↩︎
El Young et al. Copper homeostasis in ALS (2020). 2020. ↩︎