ATOX1

ATOX1_Cu_Coordination.png

ATOX1 is a human gene that encodes the Antioxidant protein 1 (ATOX1). This protein is involved in the transport of copper within cells and plays a crucial role in maintaining cellular copper homeostasis. ATOX1 is also known to have antioxidant properties and is implicated in various cellular processes, including the protection against oxidative stress.

Function

ATOX1 functions primarily as a copper chaperone. It binds copper ions and delivers them to specific targets within the cell, such as the ATP7A and ATP7B proteins, which are responsible for copper transport across cellular membranes. This process is essential for the proper functioning of several copper-dependent enzymes, including cytochrome c oxidase and superoxide dismutase.

Structure

The ATOX1 protein consists of 68 amino acids and contains a conserved metal-binding domain that is critical for its function. The structure of ATOX1 includes a ferredoxin-like fold, which is typical of copper chaperones. This structure allows ATOX1 to bind copper ions with high affinity and specificity.

Clinical Significance

Mutations in the ATOX1 gene can lead to disorders related to copper metabolism. For example, defects in copper transport can result in conditions such as Wilson's disease and Menkes disease. Additionally, ATOX1 has been studied for its potential role in cancer, as alterations in copper homeostasis can influence tumor growth and progression.

Interactions

ATOX1 interacts with several proteins involved in copper transport and homeostasis. Key interactions include:

• ATP7A - A copper-transporting ATPase involved in the export of copper from cells.
• ATP7B - Another copper-transporting ATPase, primarily involved in the excretion of copper into bile.
• CCS - Copper chaperone for superoxide dismutase, which delivers copper to the enzyme superoxide dismutase.

Research

Ongoing research is focused on understanding the detailed mechanisms of ATOX1 function and its broader implications in health and disease. Studies are exploring how ATOX1-mediated copper transport affects various physiological processes and how dysregulation of this system contributes to disease pathology.

See Also

• Copper metabolism
• Copper transport
• Wilson's disease
• Menkes disease

External Links

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