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Validated All-in-One™ qPCR Primer for SLC12A3(NM_000339.2) Search again
Product ID:
HQP017466
(click here to view gene annotation page)
Powered by BiozSpecies:
Human
Symbol:
Alias:
NCC, NCCT, TSC
Gene Description:
solute carrier family 12 member 3
Target Gene Accession:
NM_000339.2(click here to view gene page)
Estimated Delivery:
Approximately 1-3 weeks, but may vary. Please email sales@genecopoeia.com or call 301-762-0888 to confirm ETA.
Important Note:
By default, qPCR primer pairs are designed to measure the expression level of the splice variant (accession number) you selected for this gene WITHOUT consideration of other possible variants of this gene. If this gene has multiple variants, and you would like to measure the expression levels of one particular variant, multiple variants, or all variants, please contact us for a custom service project at inquiry@genecopoeia.com.
Validated result:
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| A | B |
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Each All-in-One™ qPCR Primer is experimentally validated to yield a single dissociation curve peak and to generate a single amplification of the correct size for the targeted gene. A cDNA Pool, containing reverse transcript products of 8 different human tissue total RNA(Liver, Testis,Muscle,Thyroid,Brain,Spleen,Stomach,Small Intestine)),was used as the qPCR validation template. qPCR was performed using 0.2 µM primer with 2XAll-in-One™ qPCR Mix (Catalog#: QP001,QP002,QP004,QP005). Reactions were incubated for 10min. at 95°C, followed by 40 cycles of 95°C for 10 sec.; 60°C, 20 sec. and 72°C, 15sec. using Bio-Rad iQ5™ Instrument. At the end of the last cycle, temperature was increased from 72 to 95°C to produce a melting curve. Panel A: Validated Result for Amplification Curve; Panel B: Validated Result for Melting Curve. |
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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. [provided by RefSeq].
Gene References into function
- Interaction with grp58 increases activity of the thiazide-sensitive Na-Cl cotransporter.
- gene mutation associated with hypokalemic salt-losing tubulopathies.
- Novel thiazide-sensitive Na-Cl cotransporter mutation in a Chinese patient with Gitelman's syndrome presenting as hypokalaemic paralysis.
- Diabetic patients at >55,000 SNP loci indicated a gene encoding solute carrier family 12 member 3 (SLC12A3) to be a good candidate for the susceptibility to diabetic nephropathy
- 7 different mutations of the NCCT gene were identified consisting of 3 missense, 1 splice site, and 3 silent mutations. Four of these mutations were novel.
- novel point mutation within the SLC12A3 gene in our cohort of Gypsy families with Gitelman syndrome is highly suggestive of a founder effect.
- the G264A polymorphism is associated with reduction in the substrate translocation rate of the cotransporter, due to a decrease in the intrinsic activity
- Human site directed mutagenesis is associated with Gitelman Syndrome in mice.
- G2736A polymorphism of the TSC gene is a genetic predisposing factor for essential hypertension in Japanese women.
- SLC12A3 +78A(+) genotype may have a protective effect against the development and/or progression of diabetic nephropathy in Japanese type 2 diabetic patients.
- Patient with Gitelman syndrome is due to a mutation of the SLC123A gene.
- data suggest that WNK4 wild type significantly inhibits sodium chloride cotransporter (NCC) surface expression, not owing to an increase in clathrin-mediated endocytosis of NCC, but likely from enhanced degradation of NCC through a lysosomal pathway
- NCC is activated by a mechanism that involves amino-terminal domain phosphorylation
- 13 different causative mutations in a cohort of Gitelman syndrome patients
- data suggest that the nature/position of SLC12A3 mutation, combined with male gender, is a determinant factor in the severity of Gitelman syndrome and provide new insights in the underlying pathogenic mechanisms of the disease
- Novel mutations in the SLC12A3 gene causing Gitelman's syndrome in Swedes.
- Two sporadic cases of Gitelman's syndrome and two novel genotypes of SLC12A3.
- substitution of arginine for cysteine at position 919 increases Na transport function and supports the hypothesis that mutations in renal tubular Na transporters contribute to the development of primary hypertension by increasing renal Na reabsorption
- No relation was found between sodium-chloride cotransporter expression and type of mutation in the SLC12A3 gene was found in patients with Gitelman syndrome.
- Results report that WNK3, another member of the WNK kinase family expressed by distal tubule cells, interacts with WNK4 and WNK1 to regulate NCC in both human kidney cells and Xenopus oocytes.
- Gitelmans syndrome heterozygotes are partially protected from hypertension through partial genetic loss of function of the NCCT.
- roles of Thr418Ser polymorphism of the CLCNKB gene and Arg904Gln polymorphism in the TSC gene on essential hypertension need to be explored in other ethnic groups
- Genetic variation at the SLC12A3 locus is unlikely to explain the risk for advanced diabetic nephropathy among type 2 diabetic Caucasians.
- The WNK1-SPAK/OSR1 signalling pathway plays a key role in controlling the phosphorylation and activity of NCC.
- Thr60Met may be the most common mutation in Chinese patients with GS. Possible specific genotype-phenotype correlations were difficult to identify.
- The causal gene of Gitelman's syndrome (SLC12A3) is not involved in determining blood pressure levels.
- Members of the Framingham Heart Study were screened for variation in three genes-SLC12A3, SLC12A1 and KCNJ1 causing rare recessive diseases featuring large reductions in blood pressure.
- sequencing of PVALB was performed in 132 cases of Gitelman's syndrome in whom only one or no (N = 79) mutant SLC12A3 allele was found
- analysis of a novel SLC12A3 splicing mutation skipping of two exons and preliminary screening for alternative splice variants in human kidney [case report]