Translocation of the Wilson disease protein ATP7B is independent of Murr1/ COMMD1 and Rab7
KH Weiss, JC Lozoya, S Tuma, D Gotthardt, J Reichert, R Ehehalt, W Stremmel, J Füllekrug · Zeitschrift für Gastroenterologie · 2008 · Heft 01
Bibliografische Angaben
Zusammenfassung
Wilson disease is a genetic disorder of copper metabolism. Impaired biliary excretion results in a gradual accumulation of copper predominantely in liver and brain, leading to severe neurological symptoms and liver damage. The gene defect lies in the Wilson disease protein ATP7B, a copper transporting ATPase highly active in hepatocytes. The two major functions of ATP7B in the liver are the copper loading of ceruloplasmin in the Golgi apparatus, and the excretion of excess copper into the bile. In response to elevated copper, the Wilson disease protein ATP7B shows a unique intracellular trafficking pattern requi…
