Solute Carrier Family 12 (Sodium/Chloride Transporters), Member 3 (SLC12A3) Kits ELISA

SLC12A3 encodes a renal thiazide-sensitive sodium-chloride cotransporter that is important for electrolyte homeostasis. De plus, nous expédions Solute Carrier Family 12 (Sodium/Chloride Transporters), Member 3 Anticorps (116) et Solute Carrier Family 12 (Sodium/Chloride Transporters), Member 3 Protéines (11) et beaucoup plus de produits pour cette protéine.

list all ELISA KIts Gène GeneID UniProt
SLC12A3 6559 P55017
Anti-Rat SLC12A3 SLC12A3 54300 P55018
Anti-Souris SLC12A3 SLC12A3 20497 P59158
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Catalogue No. Reactivité Sensibilité Gamme Images Quantité Livraison Prix Détails
Humain 0.123 ng/mL 0.312 ng/mL - 20 ng/mL 96 Tests 15 to 17 Days
$908.41
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Plus Kits ELISA pour Solute Carrier Family 12 (Sodium/Chloride Transporters), Member 3 partenaires d'interaction

Human Solute Carrier Family 12 (Sodium/Chloride Transporters), Member 3 (SLC12A3) interaction partners

  1. Mutation in SLC12A3 gene is associated with Gitelman syndrome.

  2. Heterozygous duplication of the SLC12A3 gene is associated with Gitelman syndrome.

  3. Two mutation sites were documented in the pedigree with Gitelman Syndrome, and one has not been reported before. Moreover, we found a mutation at nucleotide c.1456 G>A in the SLC12A3 gene that may affect thyroid function. However, further studies are needed to explore the underlying molecular mechanisms.

  4. This is the first report of two novel pathogenic variants of SLC12A3 and their contribution to Gitelman syndrome.

  5. the results demonstrated a close relationship between SLC12A3 polymorphisms and LDL-C level.

  6. We replicated the methods in a previous study to detect rare and potentially loss-of-function variants in SLC12A3, SLC12A1, and KCNJ1 reducing blood pressure in variant carriers as compared with noncarriers using whole exome sequencing data. Our study confirmed that SLC12A3, SLC12A1, and KCNJ1 are indeed genes protective of hypertension in the general population.

  7. The SLC12A3-Arg913Gln variation may be associated with increased blood pressure and UAER and, therefore, could be used to predict the development and progression of end-stage renal disease in Chinese T2DM patients undergoing hemodialysis.

  8. The mutations of both Gitelman syndrome pedigrees can be defined as compound heterozygous mutations in SLC12A3, most of which are known as missense mutations.

  9. Allelic and genotypic frequencies of single nucleotide polymorphism rs11643718 of solute carrier family 12 (sodium-chloride transporters), member 3 protein (SLC12A3) gene are associated with the onset of disease hypertension.

  10. A new recessive mutation in KLHL3 (S553L) was identified in familial hyperkalemia and hypertension. Increased urinary NCC was found in affected members (heterozygous) with dominant KLHL3 Q309R, and in affected members (homozygous) of the recessive form.

  11. Case Report: SLC12A3 gene heterozygous mutation causing Gitelman syndrome in a primary Sjogren syndrome patient.

  12. These findings have implications in providing appropriate genetic counseling to the family with regard to the risk associated with inbreeding, the detection of carrier/presymptomatic relatives. It further expands the known spectrum of genotypic and phenotypic characteristics of Gitelman syndrome.

  13. 2 novel heterozygous mutations: c.35_36insA and c.1095+5G>A were found in transcript NM_000339.2 in SLC12A3 gene were found in a patient with Gitelman syndrome. The first mutation was also found in patient's motherand the second in father. Only one of the two mutations iden-tified in our patient c.35 36insA was found in his sister.

  14. Sixteen novel SLC12A3 pathogenic mutations were identified in a cohort of Chinese patients with Gitelman syndrome.

  15. two novel mutations, a S546G substitution in exon 13, and insertion of AGCCCC at c.1930 in exon 16, were found to cause Gitelman syndrome in a South African family.

  16. Report novel SLC12A3 mutations in Chinese patients with Gitelman syndrome.

  17. we identified a novel SLC12A3 mutation in a Chinese GS pedigree, leading to the substitution of leucine by proline at codon 700 of the NCCT transporter. The proband and his elder sister had a homozygous mutation, while his mother and daughter carried one mutated allele. Because only the proband suffered from bilateral lower limb weakness, we inferred that the same genotype manifests as diverse phenotypes.

  18. MDCKI cells can be used to assess the activity, cellular localization, and abundance of wild-type or mutant NCC.

  19. In wild-type, total (tNCC) and phosphorylated (pNCC) NCC protein expressions were 1.8- and 4.6-fold higher in females compared with males, consistent with the larger response to HCTZ. In AT1a receptor knockout mice, tNCC and pNCC increased significantly in males to levels not different from those in females.

  20. NCC1/2, NCC1-3, and pNCC1-3-T55/T60 are upregulated by hydrochlorothiazide, and the increase in NCC abundance in urinary extracellular vesicles of essential hypertensive patients correlates with the blood pressure response to hydrochlorothiazide.

Mouse (Murine) Solute Carrier Family 12 (Sodium/Chloride Transporters), Member 3 (SLC12A3) interaction partners

  1. This study reveal that lack of renal NCC causes an aldosterone-mediated upregulation of circulating FGF23.

  2. Modulation of WNK4 activity by intracellular chloride [Cl(-)]i is not the sole mechanism for regulating NCC. Increased luminal NaCl delivery upregulates NCC via yet unknown mechanism(s) that may override inhibition of WNK4 by high [Cl(-)]i.

  3. Aldosterone promotes increased interaction of NCC and ENaC.

  4. Kir4.1 plays an essential role in mediating the effect of dietary potassium intake on NCC activity and potassium homeostasis.

  5. CD8+ T cells stimulate sodium/chloride co-transporter NCC in distal convoluted tubules leading to salt-sensitive hypertension.

  6. Urine output and water intake increased significantly only in pendrin KO mice in response to hydrochlorothiazide, but not in WT or NCC KO mice.

  7. Calcineurin is activated by an acute potassium load, which rapidly dephosphorylates NCC, leading to increased urinary potassium excretion.

  8. long-term aldosterone administration stimulates mouse NCC and pT58-NCC abundances in late distal convoluted kidney tubules.

  9. Potassium depletion stimulates NCC via phosphorylation and inactivation of the KLHL3 and promoting increased blood pressure.

  10. the increased NCC expression and activation is present in CMA which is highly associated with the enhanced WNK4-SPAK signal pathway using WNK4-/- and SPAK-/- mice.

  11. The Role of Epithelial Sodium Channel ENaC and the Apical Cl-/HCO3- Exchanger Pendrin in Compensatory Salt Reabsorption in the Setting of Na-Cl Cotransporter (NCC) Inactivation.

  12. This study identifies NCC as an IL18-binding protein that collaborates with IL18r in cell signaling, inflammatory molecule expression, and experimental atherogenesis.

  13. Slc12a3 mRNA and protein expression levels were upregulated in kidneys of db/db mice from 6, 12, and 26 weeks at the age.

  14. SPAK-kinase-deficient mice, which are unable to activate NCC by phosphorylation, use multiple common compensatory mechanisms to blunt natriuresis and chloriuresis and to protect against a major drop in blood pressure.

  15. NCC inhibition stimulates duodenal Ca(2+) absorption as well as osteoblast differentiation and bone Ca(2+) storage, possibly through a FAK/ERK dependent mechanism

  16. P2Y2-mediated increase of cytoplasmic Ca(2+) concentration down-regulates the expression of NCC.

  17. Estradiol, progesterone, and prolactin increase renal NaCl cotransporter phosphorylation and activity.

  18. SPAK is an important mediator of the increased NCC activation by phosphorylation that occurs in the distal convoluted tubule in response to a low-K(+) diet, but other low-potassium-activated kinases are likely to be involved.

  19. WNK4 is the major positive regulator of NCC in the kidneys.

  20. Kcnj10 is a main contributor to the basolateral K conductance in the early distal convoluted tubule (DCT1) and determines the expression of the apical Na-Cl cotransporter (NCC) in the DCT.

Solute Carrier Family 12 (Sodium/Chloride Transporters), Member 3 (SLC12A3) profil antigène

Antigen Summary

This gene encodes a renal thiazide-sensitive sodium-chloride cotransporter that is important for electrolyte homeostasis. This cotransporter mediates sodium and chloride reabsorption in the distal convoluted tubule. Mutations in this gene cause Gitelman syndrome, a disease similar to Bartter's syndrome, that is characterized by hypokalemic alkalosis combined with hypomagnesemia, low urinary calcium, and increased renin activity associated with normal blood pressure. This cotransporter is the target for thiazide diuretics that are used for treating high blood pressure. Multiple transcript variants encoding different isoforms have been found for this gene.

Gene names and symbols associated with SLC12A3

  • solute carrier family 12 member 3 (SLC12A3) anticorps
  • solute carrier family 12 (sodium/chloride transporter), member 3 (slc12a3.2) anticorps
  • solute carrier family 12 member 3 (Slc12a3) anticorps
  • solute carrier family 12, member 3 (Slc12a3) anticorps
  • AI035291 anticorps
  • DKFZp469N2315 anticorps
  • NCC anticorps
  • NCCT anticorps
  • slc12a3 anticorps
  • TSC anticorps

Protein level used designations for SLC12A3

solute carrier family 12 (sodium/chloride transporters), member 3 , thiazide-sensitive sodium chloride cotransporter , solute carrier family 12 (sodium/chloride transporters), member 3, gene 2 , solute carrier family 12 member 3-like , Na-Cl cotransporter , Na-Cl symporter , NaCl electroneutral thiazide-sensitive cotransporter , solute carrier family 12 member 3 , thiazide-sensitive Na-Cl cotransporter , thiazide-sensitive sodium-chloride cotransporter , solute carrier family 12, member 3 , sodium chloride cotransporter

GENE ID SPECIES
415692 Gallus gallus
454108 Pan troglodytes
703090 Macaca mulatta
100009348 Oryctolagus cuniculus
100038063 Xenopus (Silurana) tropicalis
100051953 Equus caballus
100172399 Pongo abelii
100409101 Callithrix jacchus
100468795 Ailuropoda melanoleuca
100015656 Monodelphis domestica
6559 Homo sapiens
54300 Rattus norvegicus
478118 Canis lupus familiaris
404171 Bos taurus
20497 Mus musculus
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