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ATP7B encodes a copper-transporting ATPase that moves excess copper out of liver cells and into bile for excretion. Loss-of-function mutations across this gene cause Wilson disease, a rare inherited disorder where copper builds up in the liver and, over time, other organs including the brain.
The ATP7B protein sits in the liver's Golgi apparatus and pumps copper into newly made ceruloplasmin (the main copper-carrying protein in blood) and, when copper is in excess, into bile for elimination. Because copper is normally absorbed from food and excreted almost exclusively through this bile pathway, a working ATP7B protein is essential to prevent toxic copper accumulation. Wilson disease requires pathogenic mutations on both gene copies and is diagnosed through clinical testing, not standard consumer DNA arrays, which typically do not cover the full range of ATP7B mutations.
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