ATOX1 — Antioxidant Protein 1 (Copper Chaperone)
<table class="infobox infobox-gene">
<tr>
<th class="infobox-header" colspan="2">ATOX1 - Copper Chaperone</th>
</tr>
<tr>
<td class="label">
Gene Symbol</td>
<td>ATOX1</td>
</tr>
<tr>
<td class="label">
Full Name</td>
<td>Antioxidant Protein 1 (Copper Chaperone)</td>
</tr>
<tr>
<td class="label">
Chromosomal Location</td>
<td>5q31.2</td>
</tr>
<tr>
<td class="label">
NCBI Gene ID</td>
<td>475</td>
</tr>
<tr>
<td class="label">
Ensembl ID</td>
<td>ENSG00000137871</td>
</tr>
<tr>
<td class="label">
UniProt ID</td>
<td>O00244</td>
</tr>
<tr>
<td class="label">
Associated Diseases</td>
<td>Menkes disease (carrier), Wilson disease (modifier), Amyotrophic Lateral Sclerosis</td>
</tr>
</table>
Overview
Mermaid diagram (expand to render)
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.
Introduction
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. [@kaler2011]
Gene Overview
Function
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.
Key Functions
Copper Delivery: ATOX1 binds copper ions and transfers them to the secretory pathway copper transporters ATP7A and ATP7B
Cellular Antioxidant Defense: The protein contributes to cellular defense against oxidative stress through its copper-binding capability
Iron Metabolism: May play a role in iron metabolism through interaction with hepcidinDisease Associations
Amyotrophic Lateral Sclerosis (ALS)
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](/entities/neurons) affected by the disease.
Menkes 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.
Wilson Disease
ATOX1 interacts with ATP7B, the copper-transporting ATPase mutated in Wilson disease. Modifiers in the ATOX1 gene may influence disease severity.
Neurodegeneration
Copper homeostasis is critical for normal neuronal function. Dysregulation of copper metabolism has been implicated in:
- [Alzheimer's disease](/diseases/alzheimers-disease)
- [Parkinson's disease](/diseases/parkinsons-disease)
- Huntington's disease
Expression
ATOX1 is expressed in most tissues, with highest expression in:
- Liver
- Brain (particularly in neurons)
- Kidney
- Intestine
In the brain, ATOX1 is expressed in:
- Cerebral [cortex](/brain-regions/cortex)
- [Hippocampus](/brain-regions/hippocampus)
- [Cerebellum](/brain-regions/cerebellum)
- Motor neurons (spinal cord)
Interactions
- ATP7A: Primary copper delivery target
- ATP7B: Copper chaperone for Wilson disease protein
- GLRX: Glutaredoxin for redox regulation
- SOD1: May influence superoxide dismutase activity
Therapeutic Implications
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.
See Also
- [ATP7A](/genes/atp7a) — Menkes disease protein
- [ATP7B](/genes/atp7b) — Wilson disease protein
- [Copper Metabolism](/mechanisms/copper-metabolism-neurodegeneration)
- [Amyotrophic Lateral Sclerosis](/diseases/amyotrophic-lateral-sclerosis)
- [Copper in Neurodegeneration](/mechanisms/copper-neurodegeneration)
Overview
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.
Background
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.
External Links
- [PubMed](https://pubmed.ncbi.nlm.nih.gov/) - Biomedical literature
- [Alzheimer's Disease Neuroimaging Initiative](https://adni.loni.usc.edu/) - Research data
- [Allen Brain Atlas](https://brain-map.org/) - Brain gene expression data
Allen Brain Atlas Resources
ATOX1 expression data available from the Allen Brain Atlas:
- [Human Brain Atlas - ATOX1 Expression](https://human.brain-map.org/microarray/search/show?search_term=ATOX1): Gene expression data across brain regions
- [Allen Cell Type Atlas](https://celltypes.brain-map.org/): Cellular expression patterns in specific neuronal types
- [BrainSpan Atlas of the Developing Human Brain](https://brainspan.org/): Developmental expression patterns
References
[Hamza et al., Copper homeostasis: Enter the ATP7A-D (1999) (1999)](https://pubmed.ncbi.nlm.nih.gov/10381625/)
[Unknown, Kaler, Menkes disease: Advances in genetics and treatment (2011) (2011)](https://pubmed.ncbi.nlm.nih.gov/21796650/)
[Miyayama et al., Copper chaperone ATOX1 in cellular copper homeostasis (2009) (2009)](https://pubmed.ncbi.nlm.nih.gov/19444251/)
[Bertinato et al., ATOX1 is a copper-dependent antioxidant enzyme (2008) (2008)](https://pubmed.ncbi.nlm.nih.gov/18391473/)
[Huster et al., ATOX1 provides copper for Wilson disease protein (2012) (2012)](https://pubmed.ncbi.nlm.nih.gov/22426537/)
[El Young et al., Copper homeostasis in ALS (2020) (2020)](https://pubmed.ncbi.nlm.nih.gov/32871024/)Pathway Diagram
The following diagram shows the key molecular relationships involving ATOX1 - Copper Chaperone discovered through SciDEX knowledge graph analysis:
Mermaid diagram (expand to render)