ATP7A
ATP7A is a gene that provides instructions for making a protein involved in copper transport within the body. This protein helps regulate copper levels, ensuring that cells receive enough of this essential mineral while preventing toxicity from excess copper.
Mutations in the ATP7A gene can lead to a genetic disorder known as Menkes disease, which affects copper absorption and distribution. Individuals with this condition may experience symptoms such as developmental delays, seizures, and distinctive hair abnormalities due to the body's inability to properly utilize copper.