ATP7B Gene: What It Does, How Mutations Cause Disease, and What You Need to Know

When your body absorbs copper from food, the ATP7B gene, a gene that codes for a copper-transporting enzyme critical for removing excess copper from the liver. Also known as the Wilson disease gene, it acts like a built-in copper pump—moving excess copper into bile so it leaves your body. Without a working ATP7B gene, copper builds up silently, damaging your liver and brain over time.

This isn’t just theoretical. People with two faulty copies of ATP7B develop Wilson disease, a genetic disorder where copper accumulates in organs, leading to liver failure, neurological problems, and psychiatric symptoms. It’s rare—about 1 in 30,000 people—but if caught early, it’s treatable. Symptoms often show up between ages 5 and 35: fatigue, jaundice, tremors, trouble speaking, or even depression. Blood tests for ceruloplasmin and urinary copper, plus a liver biopsy, can confirm it. Genetic testing for ATP7B mutations gives a definitive answer.

ATP7B doesn’t work alone. It’s part of a system that includes copper metabolism, the process by which the body absorbs, uses, and excretes copper, keeping levels tight. When ATP7B fails, copper doesn’t get packaged into ceruloplasmin (a protein that carries copper in blood), and it doesn’t get dumped into bile. Instead, it sticks around—frying liver cells, poisoning brain circuits, and even forming Kayser-Fleischer rings in the eyes. That’s why treatment isn’t just about lowering copper—it’s about fixing the broken pump. Drugs like penicillamine or trientine bind copper so your kidneys can flush it out. Zinc blocks copper absorption in the gut. And for some, a liver transplant is the only fix.

What’s surprising is how often ATP7B mutations are missed. Many doctors don’t think of Wilson disease unless someone is clearly ill. But if you have unexplained liver problems, neurological symptoms, or a family history of early liver disease, asking for an ATP7B test could save your life. And it’s not just about you—genetic testing can identify carriers in your family before symptoms start.

There’s no cure, but with the right treatment, people with Wilson disease live full, normal lives. The key is catching it before the damage becomes irreversible. That’s why understanding the ATP7B gene isn’t just academic—it’s practical. If you’ve been told your liver enzymes are off for no reason, or if you’ve had unexplained tremors or mood swings, this gene might hold the answer.

Below, you’ll find real-world guides on how to read drug labels for copper-chelating meds, what to watch for when taking zinc supplements, how genetic testing works, and how to avoid dangerous interactions with other drugs—like NSAIDs or antibiotics—that can stress your liver even more. This isn’t theory. It’s what people living with this condition need to know every day.