Solute carrier family 12

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== Function ==
== Function ==
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The '''Solute carrier family 12''' consists of 9 members which encode electroneutral cation-coupled chloride cotransporters. '''Solute carrier family 12 member 2''' (NKCC 2) is a Na+/K+/Cl- cotransporter across membranes, involved in chloride transport, metal ion transport and positive regulation of cell volume. NKCCs play a vial role in the regulation of ionic balance. NKCCs utilize the existing Na+ and K+ gradients to move Cl- into or out of cells<ref>PMID:320819471</ref>. '''NKCC 4''' mediates the couple movement of K+ and Cl- ions across the plasma membrane.
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The '''Solute carrier family 12''' consists of 9 members which encode electroneutral cation-coupled chloride cotransporters. NKCCs play a vial role in the regulation of ionic balance. NKCCs utilize the existing Na+ and K+ gradients to move Cl- into or out of cells<ref>PMID:320819471</ref>.
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*'''Solute carrier family 12 member 1''' (NKCC 1) is a Na+/K+/Cl- cotransporter playing a major role in concentrating urine and in most of the NaCl resorption.
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*'''Solute carrier family 12 member 2''' (NKCC 2) is a Na+/K+/Cl- cotransporter across membranes, involved in chloride transport, metal ion transport and positive regulation of cell volume.
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*'''Solute carrier family 12 member 3''' (NKCC ) is a Na+/Cl- cotransporter playing a major role in most of the NaCl resorption in the tubule of kidneys<ref>PMID:35591852</ref>.
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*'''NKCC 4''' mediates the couple movement of K+ and Cl- ions across the plasma membrane.
== Disease ==
== Disease ==

Revision as of 09:40, 13 August 2024

Dimer of human solute carrier family 12 member 2 complex with K+ (purple) and Cl- (green) ions (PDB code 7mxo)

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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. 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
  4. . Correction to: SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect. Brain. 2023 Apr 19;146(4):e26. PMID:36670515 doi:10.1093/brain/awad012
  5. 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
  6. Howard HC, Mount DB, Rochefort D, Byun N, Dupré N, Lu J, Fan X, Song L, Rivière JB, Prévost C, Horst J, Simonati A, Lemcke B, Welch R, England R, Zhan FQ, Mercado A, Siesser WB, George AL Jr, McDonald MP, Bouchard JP, Mathieu J, Delpire E, Rouleau GA. The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum. Nat Genet. 2002 Nov;32(3):384-92. PMID:12368912 doi:10.1038/ng1002
  7. Moseng MA, Su CC, Rios K, Cui M, Lyu M, Glaza P, Klenotic PA, Delpire E, Yu EW. Inhibition mechanism of NKCC1 involves the carboxyl terminus and long-range conformational coupling. Sci Adv. 2022 Oct 28;8(43):eabq0952. PMID:36306358 doi:10.1126/sciadv.abq0952

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