ATP7A

ATP7A

Proposed structure of ATP7A

ATP7A is a gene that encodes a protein known as the copper-transporting ATPase 1. This protein is crucial for the regulation of copper levels in the body, playing a significant role in the transport of copper across cell membranes.

Function

The ATP7A protein is primarily involved in the transport of copper ions from the cytosol into the Golgi apparatus. Within the Golgi, copper is incorporated into copper-dependent enzymes that are essential for various biological processes. ATP7A also facilitates the export of excess copper from cells, maintaining copper homeostasis.

Location

ATP7A is located on the X chromosome in humans. It is expressed in most tissues, with the notable exception of the liver, where its homolog, ATP7B, is primarily active.

Clinical significance

Mutations in the ATP7A gene are associated with several disorders, most notably Menkes disease, a condition characterized by copper deficiency. Menkes disease leads to symptoms such as developmental delay, connective tissue disorders, and neurological problems. Another condition linked to ATP7A mutations is occipital horn syndrome, which is a milder form of Menkes disease.

Mechanism

ATP7A functions as a P-type ATPase, utilizing the energy from ATP hydrolysis to transport copper ions across cellular membranes. The protein undergoes conformational changes that allow it to bind copper ions on one side of the membrane and release them on the other.

Research

Ongoing research is focused on understanding the precise mechanisms of ATP7A function and its role in copper metabolism. Studies are also exploring potential therapies for conditions caused by ATP7A mutations, including gene therapy and copper supplementation strategies.

Related pages

• Copper metabolism
• Menkes disease
• Wilson's disease
• ATP7B