Recombinant Human Solute carrier family 12 member 3 (SLC12A3), partial
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中文名稱:人SLC12A3重組蛋白
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貨號:CSB-YP021384HU
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規(guī)格:
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來源:Yeast
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其他:
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中文名稱:人SLC12A3重組蛋白
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貨號:CSB-EP021384HU
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規(guī)格:
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來源:E.coli
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其他:
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中文名稱:人SLC12A3重組蛋白
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貨號:CSB-EP021384HU-B
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規(guī)格:
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來源:E.coli
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共軛:Avi-tag Biotinylated
E. coli biotin ligase (BirA) is highly specific in covalently attaching biotin to the 15 amino acid AviTag peptide. This recombinant protein was biotinylated in vivo by AviTag-BirA technology, which method is BriA catalyzes amide linkage between the biotin and the specific lysine of the AviTag.
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其他:
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中文名稱:人SLC12A3重組蛋白
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貨號:CSB-BP021384HU
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規(guī)格:
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來源:Baculovirus
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其他:
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中文名稱:人SLC12A3重組蛋白
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貨號:CSB-MP021384HU
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規(guī)格:
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來源:Mammalian cell
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其他:
產(chǎn)品詳情
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純度:>85% (SDS-PAGE)
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基因名:SLC12A3
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Uniprot No.:
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別名:FLJ96318; Na Cl cotransporter; Na Cl symporter; Na-Cl symporter; NaCl electroneutral thiazide sensitive cotransporter; NCC; NCCT; S12A3_HUMAN; slc12a3; Solute carrier family 12 (sodium/chloride transporters) member 3; Solute carrier family 12 member 3; Thiazide sensitive Na Cl cotransporter; Thiazide sensitive sodium chloride cotransporter; Thiazide-sensitive sodium-chloride cotransporter; TSC
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種屬:Homo sapiens (Human)
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蛋白長度:Partial
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蛋白標簽:Tag?type?will?be?determined?during?the?manufacturing?process.
The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially. -
產(chǎn)品提供形式:Lyophilized powder
Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand. -
復溶:We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
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儲存條件:Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
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保質(zhì)期:The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C. -
貨期:Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
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注意事項:Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
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Datasheet :Please contact us to get it.
相關產(chǎn)品
靶點詳情
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功能:Electroneutral sodium and chloride ion cotransporter. In kidney distal convoluted tubules, key mediator of sodium and chloride reabsorption. Receptor for the proinflammatory cytokine IL18. Contributes to IL18-induced cytokine production, including IFNG, IL6, IL18 and CCL2. May act either independently of IL18R1, or in a complex with IL18R1.
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基因功能參考文獻:
- This is the first report of two novel pathogenic variants of SLC12A3 and their contribution to Gitelman syndrome. PMID: 29378538
- the results demonstrated a close relationship between SLC12A3 polymorphisms and LDL-C level. PMID: 29661184
- 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. PMID: 28744814
- The mutations of both Gitelman syndrome pedigrees can be defined as compound heterozygous mutations in SLC12A3, most of which are known as missense mutations. PMID: 26825084
- 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. PMID: 29419876
- 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. PMID: 28511177
- Case Report: SLC12A3 gene heterozygous mutation causing Gitelman syndrome in a primary Sjogren syndrome patient. PMID: 28685938
- 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. PMID: 28446151
- 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. PMID: 26306968
- Sixteen novel SLC12A3 pathogenic mutations were identified in a cohort of Chinese patients with Gitelman syndrome. PMID: 27454426
- 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. PMID: 28125972
- Report novel SLC12A3 mutations in Chinese patients with Gitelman syndrome. PMID: 27216017
- 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. PMID: 27783806
- MDCKI cells can be used to assess the activity, cellular localization, and abundance of wild-type or mutant NCC. PMID: 28515174
- 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. PMID: 28566500
- 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. PMID: 28274929
- Data show that WNK lysine deficient protein kinase 3 protein (WNK3) interacts with NCC and increases the Na-Cl cotransporter (NCC) expression on the cell membrane and in cytoplasm together. PMID: 27378340
- variants of the SLC12A3 gene confer susceptibility to the abnormal serum LDL-c level in the Mongolian population. PMID: 28166833
- A significant association of the SLC12A3 rs11643718 and ELMO1 rs741301 (Single nucleotide Polymorphism) SNPs with diabetic nephropathy in south Indians. PMID: 27699784
- This paper identified a novel SLC12A3 allele in Gitelman syndrome that activates a cryptic exon flanked by interspersed repeats deep in intron 12. PMID: 27784896
- SLC12A3 gene homozygous mutation is associated with Gitelman syndrome. PMID: 26260218
- SNPs in the SLC12A3 gene confer susceptibility to hypertension in the Mongolian population. PMID: 26751802
- Compared with patients with 1 mutant SLC12A3 allele, patients with 2 mutant SLC12A3 alleles had more severe hypomagnesemia, but did not have more severe hypokalemia. PMID: 26770037
- the results of this study support that the SLC12A3 gene is a susceptibility gene for hypertension in the Mongolian population. PMID: 26345939
- Suggest NCC1/2 is a fully functional thiazide-sensitive NaCl-transporting protein in the kidney. PMID: 26561651
- Low SLC12A3 urine levels were associated with Gitelman syndrome. PMID: 25422309
- association between thiazide-sensitive Na(+)-Cl(-) cotransporter mutants and human hypertension as well as Gitelman's syndrome (review). PMID: 25841442
- Data from two families in China suggest two homozygous mutations in SLC12A3 (Arg928Cys or Ser710X) can be associated with Gitelman syndrome; members of two families exhibit additional mutations and heterogenicity of clinical phenotype. [CASE STUDY] PMID: 25273610
- SLC12A3 Arg913Gln polymorphism was associated with Type 2 diabetes and diabetic nephropathy in the Malaysian cohort. The meta-analysis confirmed the protective effects of SLC12A3 913Gln allele in diabetic nephropathy. PMID: 25401745
- the SLC12A3 34372 AA genotype is associated with a reduced risk of diabetes. PMID: 24433479
- Identification of candidate mutations in the SLC12A3 gene that may induce exon skipping. PMID: 25060058
- findings demonstrate a predominant role played by SLC12A3 gene rs5804 in determining hypertension risk among northeastern Han Chinese PMID: 24430698
- These results suggest that WNK4 attenuates plasma membrane targeting of NCC proteins through regulation of syntaxin 13 SNARE complex formation with VAMP2 in recycling and sorting endosome. PMID: 23993962
- Mutation in the SLC12A3 gene is associated with gitelman syndrome and glomerular proteinuria. PMID: 25165177
- Association with SNP rs999662 indicates a potential role for the region containing the solute carrier family 12 member 3 (SLC12A3) gene in transcranial Doppler vasospasm following sub-arachnoid hemorrhage. PMID: 22568564
- a model where NCC is constitutively cycled to the plasma membrane, and upon stimulation, it can be phosphorylated to both increase NCC activity and decrease NCC endocytosis, together increasing NaCl transport in the DCT. PMID: 24668812
- Highly increased excretion of total urinary NCC and phosphorylated NCC is observed in type II pseudohypoaldosteronism patients. PMID: 24026181
- Total urine NCC excretion is diminished in a cohort of Gitelman's syndrome patients with homozygous NCC mutations. PMID: 23833262
- Hsp70 and Hsp90 comprise two functionally distinct ER quality control checkpoints that sequentially monitor NCC biogenesis. PMID: 23482560
- The TSC gene Arg904Gln polymorphism is not associated with essential hypertension risk. PMID: 23079845
- Analysis of SNP databases of Japanese patuients with diabetic nephropathy revealed SLC12A3 as a gene related to the above-cited diabetic complication. PMID: 23156397
- The NCC mutation p.Thr60Met carriers in Han populations have markedly lower blood pressure and slightly higher fasting plasma glucose compared with normal controls. PMID: 22627394
- Forty different SLC12A3 mutations were identified PMID: 22679066
- The study shows the identification of 38 novel mutations in the SLC12A3 gene and provides insight into the mechanisms that regulate the thiazide-sensitive NaCl cotransporter. PMID: 22009145
- Mutation leads to a failure of the thiazide-sensitive sodium-2-chloride-cotransporter, the so called Gitelman syndrome, which presents similar to a chronic thiazide therapy PMID: 21161146
- NCC exhibits distinct ERAD requirements, which correlate with its transmembrane topology and distinguish it from other clients PMID: 22027832
- Data show that K1169E lost its inhibitory effect on NCC surface expression compared to wild-type WNK4 when expressed in HEK293 cells, while it did not change NCC total protein expression. PMID: 21196779
- findings suggest that rs7204044 of TSC is a genetic factor for essential hypertension (EH) in Mongolian and Han populations and that rs13306673 is a genetic factor for EH in the Han population PMID: 21644207
- there was no significant association between the SLC12A3 R904Q variant and the ClC-Kb-T481S variant and essential hypertension in Mongolian and Han populations in Inner Mongolia PMID: 21644212
- In adult patients referred for renal hypokalaemia, we confirmed the presence of mutations of the SLC12A3 gene in 80% of cases PMID: 21753071
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相關疾病:Gitelman syndrome (GTLMNS)
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亞細胞定位:Cell membrane; Multi-pass membrane protein. Apical cell membrane; Multi-pass membrane protein.
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蛋白家族:SLC12A transporter family
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組織特異性:Predominantly expressed in the kidney (at protein level). Localizes to the distal convoluted tubules (at protein level)(PubMed:29993276). Not detected in normal aorta, but abundantly expressed in fatty streaks and advanced atherosclerotic lesions (at prot
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