Solute carrier family 12

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== Disease ==
== Disease ==
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Mutations in '''NKCC 3''' play pathogenic effects in Gitelman syndrome<ref>PMID:35591852</ref>.
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Mutations in '''NKCC 3''' play pathogenic effects in Gitelman syndrome<ref>PMID:35591852</ref>. Polymorphism in NKCC 3 contribute to genetic susceptibility to diabetic nephropathy and essential hypertension<ref>PMID:16505253</ref>.
== Relevance ==
== Relevance ==

Revision as of 08:32, 17 April 2024

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References

  1. . PMID:320819471
  2. Li N, Gu HF. Genetic and Biological Effects of SLC12A3, a Sodium-Chloride Cotransporter, in Gitelman Syndrome and Diabetic Kidney Disease. Front Genet. 2022 May 3;13:799224. PMID:35591852 doi:10.3389/fgene.2022.799224
  3. Kim JH, Shin HD, Park BL, Moon MK, Cho YM, Hwang YH, Oh KW, Kim SY, Lee HK, Ahn C, Park KS. SLC12A3 (solute carrier family 12 member [sodium/chloride] 3) polymorphisms are associated with end-stage renal disease in diabetic nephropathy. Diabetes. 2006 Mar;55(3):843-8. PMID:16505253 doi:10.2337/diabetes.55.03.06.db05-1013

Proteopedia Page Contributors and Editors (what is this?)

Michal Harel, Alexander Berchansky

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