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Physiologic function of the Wilson disease gene product, ATP7B.
Am J Clin Nutr. 1998 05; 67(5 Suppl):982S-987S.AJ

Abstract

The genes responsible for Wilson disease and Menkes syndrome have been cloned and identified as copper ATPases. These enzymes form part of a large family of transporters, the P-type ATPases. Although copper ATPases share strong structural similarities with these other pumps, comparatively little is known about their physiologic function. In this review, we examine data relating to the Wilson disease protein, ATP7B, in the liver. We present evidence suggesting that ATP7B is located intracellularly, together with data suggesting that, at least in part, ATP7B may also be found on the canalicular membrane. We also examine the form of copper that the transporter recognizes. We then review data on the Long-Evans Cinnamon rat, a model for Wilson disease, and discuss what effect the Wilson disease mutation has on copper transport. Finally, we conclude that, although we have made major advances in our understanding of copper metabolism in the liver, there are still many questions awaiting answers.

Authors+Show Affiliations

Department of Child Health, Ninewells Hospital and Medical School, University of Dundee, United Kingdom.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't
Review

Language

eng

PubMed ID

9587140

Citation

Bingham, M J., et al. "Physiologic Function of the Wilson Disease Gene Product, ATP7B." The American Journal of Clinical Nutrition, vol. 67, no. 5 Suppl, 1998, 982S-987S.
Bingham MJ, Ong TJ, Summer KH, et al. Physiologic function of the Wilson disease gene product, ATP7B. Am J Clin Nutr. 1998;67(5 Suppl):982S-987S.
Bingham, M. J., Ong, T. J., Summer, K. H., Middleton, R. B., & McArdle, H. J. (1998). Physiologic function of the Wilson disease gene product, ATP7B. The American Journal of Clinical Nutrition, 67(5 Suppl), 982S-987S. https://doi.org/10.1093/ajcn/67.5.982S
Bingham MJ, et al. Physiologic Function of the Wilson Disease Gene Product, ATP7B. Am J Clin Nutr. 1998;67(5 Suppl):982S-987S. PubMed PMID: 9587140.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Physiologic function of the Wilson disease gene product, ATP7B. AU - Bingham,M J, AU - Ong,T J, AU - Summer,K H, AU - Middleton,R B, AU - McArdle,H J, PY - 1998/5/20/pubmed PY - 1998/5/20/medline PY - 1998/5/20/entrez SP - 982S EP - 987S JF - The American journal of clinical nutrition JO - Am. J. Clin. Nutr. VL - 67 IS - 5 Suppl N2 - The genes responsible for Wilson disease and Menkes syndrome have been cloned and identified as copper ATPases. These enzymes form part of a large family of transporters, the P-type ATPases. Although copper ATPases share strong structural similarities with these other pumps, comparatively little is known about their physiologic function. In this review, we examine data relating to the Wilson disease protein, ATP7B, in the liver. We present evidence suggesting that ATP7B is located intracellularly, together with data suggesting that, at least in part, ATP7B may also be found on the canalicular membrane. We also examine the form of copper that the transporter recognizes. We then review data on the Long-Evans Cinnamon rat, a model for Wilson disease, and discuss what effect the Wilson disease mutation has on copper transport. Finally, we conclude that, although we have made major advances in our understanding of copper metabolism in the liver, there are still many questions awaiting answers. SN - 0002-9165 UR - https://www.unboundmedicine.com/medline/citation/9587140/Physiologic_function_of_the_Wilson_disease_gene_product_ATP7B_ L2 - https://academic.oup.com/ajcn/article-lookup/doi/10.1093/ajcn/67.5.982S DB - PRIME DP - Unbound Medicine ER -