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Dominant isolated renal magnesium loss is caused by misrouting of the Na+,K+-ATPase γ-subunit

Dominant isolated renal magnesium loss is caused by misrouting of the Na+,K+-ATPase γ-subunit Primary hypomagnesaemia is composed of a heterogeneous group of disorders characterized by renal or intestinal Mg2+ wasting, often associated with disturbances in Ca2+ excretion 1 . We identified a putative dominant-negative mutation in the gene encoding the Na+,K+-ATPase γ-subunit (FXYD2), leading to defective routing of the protein in a family with dominant renal hypomagnesaemia. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Nature Genetics Springer Journals

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References (11)

Publisher
Springer Journals
Copyright
Copyright © 2000 by Nature America Inc.
Subject
Biomedicine; Biomedicine, general; Human Genetics; Cancer Research; Agriculture; Gene Function; Animal Genetics and Genomics
ISSN
1061-4036
eISSN
1546-1718
DOI
10.1038/81543
Publisher site
See Article on Publisher Site

Abstract

Primary hypomagnesaemia is composed of a heterogeneous group of disorders characterized by renal or intestinal Mg2+ wasting, often associated with disturbances in Ca2+ excretion 1 . We identified a putative dominant-negative mutation in the gene encoding the Na+,K+-ATPase γ-subunit (FXYD2), leading to defective routing of the protein in a family with dominant renal hypomagnesaemia.

Journal

Nature GeneticsSpringer Journals

Published: Nov 1, 2000

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