| Attribute | Value |
|---|---|
| Gene Symbol | ATOX1 |
| Full Name | Antioxidant Protein 1 (Copper Chaperone) |
| 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.
This page was created as part of the NeuroWiki gene pages project (ci015).