显性孤立性肾镁丢失是由钠钾ATP酶γ亚基的错向转运所致。
Dominant isolated renal magnesium loss is caused by misrouting of the Na(+),K(+)-ATPase gamma-subunit.
作者信息
Meij I C, Koenderink J B, van Bokhoven H, Assink K F, Groenestege W T, de Pont J J, Bindels R J, Monnens L A, van den Heuvel L P, Knoers N V
机构信息
Department of Pediatrics, Institute of Cellular Signaling, University Medical Centre Nijmegen, Nijmegen, The Netherlands.
出版信息
Nat Genet. 2000 Nov;26(3):265-6. doi: 10.1038/81543.
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.
原发性低镁血症由一组异质性疾病组成，其特征为肾脏或肠道镁离子（Mg²⁺）流失，常伴有钙离子（Ca²⁺）排泄紊乱。我们在编码钠钾ATP酶γ亚基（FXYD2）的基因中鉴定出一个推定的显性负性突变，该突变导致一个患有显性遗传性肾性低镁血症的家族中该蛋白的转运出现缺陷。
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