Gen ATP7B

The ATP7B gene (13q14.3-q21.1; OMIM: 606882) encodes the eponymous product. The full name is: ATPase, Cu2+ transporting, beta polypeptide.

Mutations of this gene cause Wilson's disease. As ATP7B ATPase is a large transmembrane protein (8 transmembrane segments, a copper-binding domain and an ATP-binding domain), there are many mutations causing the non-functionality of this protein.

So far, about 300 such mutations are known, manifesting in different sections of the protein. However, about 40&thinsp;% (the value varies geographically) of Wilson's disease is caused by a single mutation (H1069Q). This affects the ATP-binding domain and makes it impossible to split the already bound ATP molecule.