ATP7B (WND) PROTEIN

Wilson's disease is a genetic disorder of copper metabolism characteri zed by the excessive accumulation of this metal in the liver. The gene for Wilson's disease, designated ATP7B, encodes a copper transporting P-type ATPase expressed predominantly in the liver. Over 60 disease s pecific mutations of ATP7B have now been reported in patients with Wil son's disease. The gene for ATP7B is similar to 80 kb and contains 21 exons that encode an similar to 7.5 kb transcript. Recent studies that focus on the structure and expression of the ATP7B protein support it s role as a copper transporter involved in the intracellular trafficki ng of copper in hepatocytes. The introduction of functional ATP7B prot ein by recombinant adenovirus mediated gene delivery will be a potenti al approach for correcting Wilson's disease. (C) 1998 Elsevier Science Ltd. All rights reserved.