Member 1 Solute Carrier Family 12

Na-K-Cl transporter in the ASCENDING LIMB OF LOOP OF HENLE. It mediates active reabsorption of sodium chloride and is inhibited by LOOP DIURETICS such as FUROSEMIDE; and BUMETANIDE. Mutations in the gene encoding SLC12A1 are associated with a BARTTER SYNDROME.

Also Known As:

Solute Carrier Family 12, Member 1; BSC1 Transport Protein; Bumetanide-Sensitive Sodium-(Potassium)-Chloride Cotransporter 2; Kidney-Specific Na-K-Cl Symporter; NKCC2 Cotransporter; NKCC2 Protein; SLC12A1 Cotransporter; SLC12A1 Protein; Cotransporter, NKCC2; Cotransporter, SLC12A1; Kidney Specific Na K Cl Symporter; Na-K-Cl Symporter, Kidney-Specific; Protein, BSC1 Transport; Protein, NKCC2; Protein, SLC12A1; Symporter, Kidney-Specific Na-K-Cl; Transport Protein, BSC1

Networked: 37 relevant articles (0 outcomes, 0 trials/studies)

Bio-Agent Context: Research Results

Amino Acids, Peptides, and Proteins: 1
- Proteins: 484843
  - Carrier Proteins: 12999
    - Membrane Transport Proteins: 589
      - Ion Pumps: 61
        Symporters: 1442
        Solute Carrier Family 12: 13
        Sodium-Potassium-Chloride Symporters: 109
        Member 1 Solute Carrier Family 12: 37
        antenatal type 1 Bartter syndrome: 1
        human SLC12A1 protein
        mouse Slc12a1 protein
        rat Slc12a1 protein
        zebrafish SLC12A10.2 protein
      - Solute Carrier Proteins: 34
        Sodium-Potassium-Chloride Symporters: 109
        Member 1 Solute Carrier Family 12: 37
        antenatal type 1 Bartter syndrome: 1
        human SLC12A1 protein
        mouse Slc12a1 protein
        rat Slc12a1 protein
        zebrafish SLC12A10.2 protein
  - Membrane Proteins: 10078
    - Membrane Transport Proteins: 589
      - Ion Pumps: 61
        Symporters: 1442
        Sodium-Potassium-Chloride Symporters: 109
        Member 1 Solute Carrier Family 12: 37
        antenatal type 1 Bartter syndrome: 1
        human SLC12A1 protein
        mouse Slc12a1 protein
        rat Slc12a1 protein
        zebrafish SLC12A10.2 protein
      - Solute Carrier Proteins: 34
        Sodium-Potassium-Chloride Symporters: 109
        Member 1 Solute Carrier Family 12: 37
        antenatal type 1 Bartter syndrome: 1
        human SLC12A1 protein
        mouse Slc12a1 protein
        rat Slc12a1 protein
        zebrafish SLC12A10.2 protein

Experts

1.	Demaretz, Sylvie: 2 articles (12/2021 - 12/2013)
2.	Laghmani, Kamel: 2 articles (12/2021 - 12/2013)
3.	Aigner, Bernhard: 2 articles (08/2014 - 06/2010)
4.	Fuchs, Helmut: 2 articles (08/2014 - 06/2010)
5.	Gailus-Durner, Valérie: 2 articles (08/2014 - 06/2010)
6.	Hans, Wolfgang: 2 articles (08/2014 - 06/2010)
7.	Ivandic, Boris: 2 articles (08/2014 - 06/2010)
8.	Kemter, Elisabeth: 2 articles (08/2014 - 06/2010)
9.	Rathkolb, Birgit: 2 articles (08/2014 - 06/2010)
10.	Schrewe, Anja: 2 articles (08/2014 - 06/2010)

Related Diseases

1.	Bartter Syndrome (Syndrome, Bartter) 12/29/2021 - "Mutations in the apically located kidney Na-K-2Cl cotransporter NKCC2 cause type I Bartter syndrome, a life-threatening kidney disorder. " 02/01/2017 - "Bartter syndrome (BS) type 1 is an autosomal recessive kidney disorder caused by loss‑of‑function mutations in the solute carrier family 12 member 1 (SLC12A1) gene. " 01/01/2017 - "We present two apparently nonrelated cases with antenatal Bartter syndrome type I, due to a novel variant in the SLC12A1 gene encoding the bumetanide-sensitive sodium-(potassium)-chloride cotransporter 2 in the thick ascending limb of the loop of Henle. " 08/02/2014 - "Type I Bartter syndrome is a recessive human nephropathy caused by loss-of-function mutations in the SLC12A1 gene coding for the Na+-K+-2Cl- cotransporter NKCC2. " 06/01/2003 - "Mutations in the human Na-K-2Cl cotransporter (NKCC2) identified in Bartter syndrome type I consistently result in nonfunctional transporters."
2.	Hypertension (High Blood Pressure) 11/02/2018 - "We demonstrate that the link between ALMS1 and hypertension involves the activation of the renal Na+/K+/2Cl- cotransporter NKCC2, mediated by regulation of its endocytosis. " 08/01/2011 - "To verify whether the Na-K-2Cl cotransporter (NKCC2) is involved in the maintenance of hypertension in MHS rats, we have analysed the phosphorylation state and the activation of NKCC2 in Milan rats. " 07/18/2023 - "Cyclosporin-induced hypertension is associated with the up-regulation of Na+-K+-2Cl- cotransporter (NKCC2)." 12/01/2013 - "The link between uromodulin and hypertension is due to activation of the renal sodium cotransporter NKCC2. "
3.	Alkalosis 06/01/1996 - "Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2." 01/01/2002 - "The renal-specific Na-Cl cotransporter (NCC) and Na-K-2Cl cotransporter (NKCC2) are involved in Gitelman and Bartter syndrome, respectively, autosomal recessive forms of metabolic alkalosis. " 10/01/1996 - "Mutations in the Na-K-2Cl cotransporter (NKCC2), a mediator of renal salt reabsorption, cause Bartter's syndrome, featuring salt wasting, hypokalaemic alkalosis, hypercalciuria and low blood pressure. " 09/01/2019 - "Antenatal Bartter syndrome (BS) is an autosomal recessive hereditary renal tubular disorder caused by mutation in the solute carrier family 12 member 1 (SLC12A1) gene on chromosome 15q21.1. This syndrome is characterized by polyuria, hyponatremia, hypokalemic hypochloremic metabolic alkalosis, and hypercalciuria associated with increased urinary loss of electrolytes. "
4.	Hypercalciuria 06/01/1996 - "Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2." 10/01/1996 - "Mutations in the Na-K-2Cl cotransporter (NKCC2), a mediator of renal salt reabsorption, cause Bartter's syndrome, featuring salt wasting, hypokalaemic alkalosis, hypercalciuria and low blood pressure. " 09/01/2019 - "Antenatal Bartter syndrome (BS) is an autosomal recessive hereditary renal tubular disorder caused by mutation in the solute carrier family 12 member 1 (SLC12A1) gene on chromosome 15q21.1. This syndrome is characterized by polyuria, hyponatremia, hypokalemic hypochloremic metabolic alkalosis, and hypercalciuria associated with increased urinary loss of electrolytes. "
5.	Gitelman Syndrome 09/01/2003 - "Bartter's syndrome may be linked to dysfunction of Na-K-2Cl cotransporter (NKCC2), renal outer medullary K channel (ROMK), or Cl channel Kb (ClC-Kb), while Gitelman's syndrome may be linked to Na-Cl cotransporter (NCCT) dysfunction. " 06/01/2005 - "Conversely, impaired function of the Na+,K+,2Cl- cotransporter (NKCC2), the renal outer medullary K+ channel (ROMK1), and the renal epithelial Cl- channel ClCKb/Barttin causes Bartter syndrome and defective Na+,Cl+ cotransporter (NCCT) Gitelman syndrome, salt-wasting disorders with hypotension. "

Related Drugs and Biologics

1.	Salts
2.	Member 3 Solute Carrier Family 12
3.	Sodium Potassium Chloride Symporter Inhibitors (Loop Diuretics)
4.	Sodium
5.	Bumetanide (Bumex)
6.	Inwardly Rectifying Potassium Channels (Inward Rectifier Potassium Channels)
7.	Urea (Carbamide)
8.	Furosemide (Lasix)
9.	Calcineurin Inhibitors
10.	Long Noncoding RNA

Related Therapies and Procedures

1.	Denervation