Recombinant Human ATP7b protein

Supplementary information

This supplementary information is collated from multiple sources and compiled automatically.

ATP7B also known as Wilson disease protein is a copper-transporting ATPase. This protein has a mass of approximately 146 kDa. It is mainly expressed in the liver kidney placenta and brain. ATP7B functions mechanically by transporting copper across different cellular compartments. It utilizes ATP hydrolysis to pump copper ions helping the body regulate copper homeostasis. This transport activity is located predominantly in the trans-Golgi network where ATP7B assists in incorporating copper into ceruloplasmin a critical copper-carrying blood plasma protein.

Biological function summary

ATP7B plays a significant role in maintaining copper balance within the body. It associates with intracellular vesicles and through its catalytic activity influences various cellular metabolic processes. Although ATP7B does not typically form large complexes its interaction with other proteins and cellular organelles contributes to copper ion binding and transfer. Proper ATP7B function ensures that copper is channeled effectively to places where it is required for enzymatic activity or is expelled from cells to prevent accumulation.

Pathways

ATP7B is a central figure in the copper transport and homeostasis pathway. Its role is directly connected to the biosynthesis of copper-dependent enzymes. The protein impacts the pathway involving ceruloplasmin biosynthesis by regulating copper ion incorporation. ATP7A another copper-transporting ATPase shares similar pathway responsibilities but in different tissues showing divergence in their specific biological roles. Together they ensure whole-body copper balance.

ATP7B mutations or dysfunction is strongly implicated in Wilson's disease a genetic disorder characterized by excessive copper accumulation. This can result in hepatic neurological and psychiatric symptoms due to copper buildup. The protein's relationship to Wilson's disease suggests its critical role in preventing copper toxicity. There is also evidence linking ATP7B with Menkes disease but ATP7A plays a more direct role in Menkes highlighting the distinct responsibilities these ATPases have in different tissues and conditions.