title: Dominant isolated renal magnesium loss is caused by misrouting of the Na(+),K(+)-ATPase gamma-subunit.
abstract: Primary hypomagnesaemia is composed of a heterogeneous group of disorders characterized by renal or intestinal Mg(2+) wasting, often associated with disturbances in Ca(2+) excretion. We identified a putative dominant-negative mutation in the gene encoding the Na(+), K(+)-ATPase gamma-subunit (FXYD2), leading to defective routing of the protein in a family with dominant renal hypomagnesaemia.
authors.affiliation: Department of Pediatrics, Institute of Cellular Signaling, University Medical Centre Nijmegen, Nijmegen, The Netherlands.
authors.forename: I C
authors.initials: IC
authors.lastname: Meij
authors.forename: J B
authors.initials: JB
authors.lastname: Koenderink
authors.forename: H
authors.initials: H
authors.lastname: van Bokhoven
authors.forename: K F
authors.initials: KF
authors.lastname: Assink
authors.forename: W T
authors.initials: WT
authors.lastname: Groenestege
authors.forename: J J
authors.initials: JJ
authors.lastname: de Pont
authors.forename: R J
authors.initials: RJ
authors.lastname: Bindels
authors.forename: L A
authors.initials: LA
authors.lastname: Monnens
authors.forename: L P
authors.initials: LP
authors.lastname: van den Heuvel
authors.forename: N V
authors.initials: NV
authors.lastname: Knoers
mesh_terms: D017398:Alternative Splicing; D000595:Amino Acid Sequence; D000818:Animals; D019556:COS Cells; D002522:Chlorocebus aethiops; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics; D018076:DNA, Complementary / Q000235:genetics; D005799:Genes, Dominant; D005822:Genetic Vectors; D006801:Humans; D007686:Kidney Tubules, Distal / Q000378:metabolism*; D008274:Magnesium / Q000378:metabolism*; D008275:Magnesium Deficiency / Q000097:blood / Q000235:genetics*; D008322:Mammals / Q000378:metabolism; D051379:Mice; D008969:Molecular Sequence Data; D017924:Nucleopolyhedroviruses / Q000235:genetics; D021122:Protein Subunits; D021381:Protein Transport; D051381:Rats; D011993:Recombinant Fusion Proteins / Q000378:metabolism; D016415:Sequence Alignment; D000254:Sodium-Potassium-Exchanging ATPase / Q000737:chemistry / Q000172:deficiency* / Q000235:genetics / Q000378:metabolism; D013045:Species Specificity; D018411:Spodoptera / Q000166:cytology / Q000378:metabolism; D014162:Transfection
chemical_list: D018076:DNA, Complementary; D021122:Protein Subunits; D011993:Recombinant Fusion Proteins; C416502:FXYD2 protein, human; C498816:Fxyd2 protein, mouse; C498817:Fxyd2 protein, rat; D000254:Sodium-Potassium-Exchanging ATPase; D008274:Magnesium