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SLC12A1 encodes a kidney-specific sodium-potassium-chloride cotransporter that is expressed on the luminal membrane of renal epithelial cells of the thick ascending limb of Henle's loop and the macula densa.
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an association between primary hyperparathyroidism and loss of function mutation of SLC12A1, which may result in an aberrant threshold of the calcium sensing receptor (show CASR Proteins) at the level of the kidney, is reported.
A novel variant in the SLC12A1 gene, c.1614T>A, which predicts a change from a tyrosine codon to a stop codon (p.Tyr538Ter) was found in two families with Bartter syndrome type I.
Low SLC12A1 urine levels were associated with Bartter syndrome.
Mutations in SLC12A1 gene is associated with Bartter syndrome.
Urinary NKCC2 increased in chronic kidney disease patients and decreased in controls in response to hypertonic saline.
The association between polymorphisms in KCNJ1 (show KCNJ1 Proteins), SLC12A1, and 7 other genes and calcium intake and colorectal neoplasia risk was studied.
overexpression of mammalian plasma-membrane Na+-K+-2Cl- co-transporter NKCC2 in yeast cells complements the phenotypes resulting from the deletion of the VHC1 gene.
NKCC2 mutations result in impaired apical targeting and function of NKCC2 transporter and give rise to a pathological phenotype known as type I Bartter syndrome. (Review)
Data show that intracellular association between WNK1 (show WNK1 Proteins) and oxidative stress-responsive 1 (OSR1 (show OXSR1 Proteins)) is required for stimulation of OSR1 (show OXSR1 Proteins) and Na(+), K(+), Cl(-)-Cotransporter NKCC1 (show SLC12A2 Proteins) and NKCC2 activities by osmotic stress.
NKCC1 (show SLC12A2 Proteins) and NKCC2 were expressed in the gastric mucosa of rat, mouse and human.
SLC12A1 (g.62382825G>A, p.Pro372Leu) is a hypomorphic or loss-of-function mutation and the hydrallantois with this mutation shows incomplete penetrance in Japanese Black cattle.
The differential regulation of ROMK (show KCNJ1 Proteins), large-conductance Ca(2 (show CA2 Proteins)+)-activated K(+) (BK) channel (show KCNMA1 Proteins), BK-alpha and NKCC2 between female and male mice, at least, were partly mediated via WNK1 (show WNK1 Proteins) pathway, which may contribute to the sexual dimorphism of plasma K(+) and blood pressure control.
VAMP3 (show VAMP3 Proteins) is required for normal NKCC2 expression, renal function, and blood pressure.
IL-1 (show IL1A Proteins) receptor (IL-1R1) deficiency or blockade limits blood pressure elevation in this model by mitigating sodium reabsorption via the NKCC2 co-transporter in the nephron.
Data suggest renal cell lines exhibit an OS9- (osteosarcoma amplified 9 protein-)mediated ERAD (endoplasmic reticulum-associated degradation) pathway that degrades Nkcc2/Slc12a1 prior to glycosylation/processing.
The findings demonstrated a substantial role of mitochondrial dysfunction in mediating the downregulation of NKCC2 and ENaCalpha in obstructive kidney disease, possibly via iNOS-derived nitric oxide and BNP.
our results suggest that NKCCs are involved in insulin (show INS Proteins) secretion and that a single Slc12a2 (show SLC12A2 Proteins) allele may protect beta-cells from failure due to increased homeostatic expression of Slc12a1.
Vasopressin (show AVP Proteins) plays an important role in the colonic epithelia by stimulating NKCC2 trafficking to the apical membrane and inducing NKCC2-mediated ion transport.
In this systemic analysis no clear primary effects of the Slc12a1I299F mutation appeared for the organs other than the kidneys where Slc12a1 expression has been described.
increased phosphorylation of Na(+)-K(+)-2Cl(-) cotransporter in obesity and identifies a new role for AMP-activated protein kinase in regulating the activity of oxidative stress responsive 1 kinase-related proline-alanine-rich protein kinase
Differential splicing of NKCC2 contributes to the adaptive capacity of the kidney to cope with changes in reabsorptive needs.
This gene encodes a kidney-specific sodium-potassium-chloride cotransporter that is expressed on the luminal membrane of renal epithelial cells of the thick ascending limb of Henle's loop and the macula densa. It plays a key role in concentrating urine and accounts for most of the NaCl resorption. It is sensitive to such diuretics as furosemide and bumetanide. Some Bartter-like syndromes result from defects in this gene. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional splice variants have been described but their biological validity in humans has not been experimentally proven.
FERM domain-containing protein 4A
, Na/K/Cl cotransporter
, solute carrier family 12 (sodium/potassium/chloride transporters), member 1
, solute carrier family 12 member 1-like
, NKCC2A variant A
, Na-K-2Cl cotransporter
, bumetanide-sensitive sodium-(potassium)-chloride cotransporter 2
, kidney-specific Na-K-Cl symporter
, solute carrier family 12 member 1
, Solute carrier family 12 member 1 (bumetanide-sensitive sodium-[potassium]-chloride cotransporter)
, Solute carrier family 12, member 1 (bumetanide-sensitive sodium-[potassium]-chloride cotransporter)
, apical Na(2Cl)K cotransporter
, solute carrier family 12, member 1
, bumetanide-sensitive cotransporter type 1