ATP7B (WND) protein

被引：69
作者：
Terada, K
Schilsky, ML
Miura, N
Sugiyama, T
机构：
[1] Akita Univ, Sch Med, Dept Biochem, Akita 010, Japan
[2] Yeshiva Univ Albert Einstein Coll Med, Marion Bessin Liver Res Ctr, Bronx, NY 10461 USA
来源：
INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY | 1998年 / 30卷 / 10期
关键词：
ATP7B; copper transport; Wilson's disease;
D O I：
10.1016/S1357-2725(98)00073-9
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
Wilson's disease is a genetic disorder of copper metabolism characterized 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 specific mutations of ATP7B have now been reported in patients with Wilson'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 its role as a copper transporter involved in the intracellular trafficking of copper in hepatocytes. The introduction of functional ATP7B protein by recombinant adenovirus mediated gene delivery will be a potential approach for correcting Wilson's disease. (C) 1998 Elsevier Science Ltd. All rights reserved.
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收藏
页码：1063 / 1067
页数：5
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