在线日韩日本国产亚洲丨少妇伦子伦情品无吗丨欧美性猛交xxxx免费看蜜桃丨精品人妻系列无码一区二区三区丨亚洲精品无码不卡在线播放

Your Good Partner in Biology Research

SLC12A3 Antibody, HRP conjugated

  • 中文名稱:
    SLC12A3兔多克隆抗體, HRP偶聯(lián)
  • 貨號:
    CSB-PA021384LB01HU
  • 規(guī)格:
    ¥880
  • 其他:

產(chǎn)品詳情

  • 產(chǎn)品名稱:
    Rabbit anti-Homo sapiens (Human) SLC12A3 Polyclonal antibody
  • Uniprot No.:
  • 基因名:
    SLC12A3
  • 別名:
    FLJ96318 antibody; Na Cl cotransporter antibody; Na Cl symporter antibody; Na-Cl symporter antibody; NaCl electroneutral thiazide sensitive cotransporter antibody; NCC antibody; NCCT antibody; S12A3_HUMAN antibody; slc12a3 antibody; Solute carrier family 12 (sodium/chloride transporters) member 3 antibody; Solute carrier family 12 member 3 antibody; Thiazide sensitive Na Cl cotransporter antibody; Thiazide sensitive sodium chloride cotransporter antibody; Thiazide-sensitive sodium-chloride cotransporter antibody; TSC antibody
  • 宿主:
    Rabbit
  • 反應(yīng)種屬:
    Human
  • 免疫原:
    Recombinant Human Solute carrier family 12 member 3 protein (791-952AA)
  • 免疫原種屬:
    Homo sapiens (Human)
  • 標(biāo)記方式:
    HRP
  • 克隆類型:
    Polyclonal
  • 抗體亞型:
    IgG
  • 純化方式:
    >95%, Protein G purified
  • 濃度:
    It differs from different batches. Please contact us to confirm it.
  • 保存緩沖液:
    Preservative: 0.03% Proclin 300
    Constituents: 50% Glycerol, 0.01M PBS, pH 7.4
  • 產(chǎn)品提供形式:
    Liquid
  • 應(yīng)用范圍:
    ELISA
  • Protocols:
  • 儲存條件:
    Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
  • 貨期:
    Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
  • 用途:
    For Research Use Only. Not for use in diagnostic or therapeutic procedures.

產(chǎn)品評價

靶點詳情

  • 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.
  • 基因功能參考文獻(xiàn):
    1. This is the first report of two novel pathogenic variants of SLC12A3 and their contribution to Gitelman syndrome. PMID: 29378538
    2. the results demonstrated a close relationship between SLC12A3 polymorphisms and LDL-C level. PMID: 29661184
    3. 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
    4. 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
    5. 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
    6. 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
    7. Case Report: SLC12A3 gene heterozygous mutation causing Gitelman syndrome in a primary Sjogren syndrome patient. PMID: 28685938
    8. 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
    9. 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
    10. Sixteen novel SLC12A3 pathogenic mutations were identified in a cohort of Chinese patients with Gitelman syndrome. PMID: 27454426
    11. 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
    12. Report novel SLC12A3 mutations in Chinese patients with Gitelman syndrome. PMID: 27216017
    13. 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
    14. MDCKI cells can be used to assess the activity, cellular localization, and abundance of wild-type or mutant NCC. PMID: 28515174
    15. 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
    16. 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
    17. 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
    18. variants of the SLC12A3 gene confer susceptibility to the abnormal serum LDL-c level in the Mongolian population. PMID: 28166833
    19. A significant association of the SLC12A3 rs11643718 and ELMO1 rs741301 (Single nucleotide Polymorphism) SNPs with diabetic nephropathy in south Indians. PMID: 27699784
    20. 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
    21. SLC12A3 gene homozygous mutation is associated with Gitelman syndrome. PMID: 26260218
    22. SNPs in the SLC12A3 gene confer susceptibility to hypertension in the Mongolian population. PMID: 26751802
    23. 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
    24. the results of this study support that the SLC12A3 gene is a susceptibility gene for hypertension in the Mongolian population. PMID: 26345939
    25. Suggest NCC1/2 is a fully functional thiazide-sensitive NaCl-transporting protein in the kidney. PMID: 26561651
    26. Low SLC12A3 urine levels were associated with Gitelman syndrome. PMID: 25422309
    27. association between thiazide-sensitive Na(+)-Cl(-) cotransporter mutants and human hypertension as well as Gitelman's syndrome (review). PMID: 25841442
    28. 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
    29. 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
    30. the SLC12A3 34372 AA genotype is associated with a reduced risk of diabetes. PMID: 24433479
    31. Identification of candidate mutations in the SLC12A3 gene that may induce exon skipping. PMID: 25060058
    32. findings demonstrate a predominant role played by SLC12A3 gene rs5804 in determining hypertension risk among northeastern Han Chinese PMID: 24430698
    33. 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
    34. Mutation in the SLC12A3 gene is associated with gitelman syndrome and glomerular proteinuria. PMID: 25165177
    35. 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
    36. 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
    37. Highly increased excretion of total urinary NCC and phosphorylated NCC is observed in type II pseudohypoaldosteronism patients. PMID: 24026181
    38. Total urine NCC excretion is diminished in a cohort of Gitelman's syndrome patients with homozygous NCC mutations. PMID: 23833262
    39. Hsp70 and Hsp90 comprise two functionally distinct ER quality control checkpoints that sequentially monitor NCC biogenesis. PMID: 23482560
    40. The TSC gene Arg904Gln polymorphism is not associated with essential hypertension risk. PMID: 23079845
    41. Analysis of SNP databases of Japanese patuients with diabetic nephropathy revealed SLC12A3 as a gene related to the above-cited diabetic complication. PMID: 23156397
    42. 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
    43. Forty different SLC12A3 mutations were identified PMID: 22679066
    44. 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
    45. 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
    46. NCC exhibits distinct ERAD requirements, which correlate with its transmembrane topology and distinguish it from other clients PMID: 22027832
    47. 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
    48. 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
    49. 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
    50. In adult patients referred for renal hypokalaemia, we confirmed the presence of mutations of the SLC12A3 gene in 80% of cases PMID: 21753071

    顯示更多

    收起更多

  • 相關(guān)疾病:
    Gitelman syndrome (GTLMNS)
  • 亞細(xì)胞定位:
    Cell membrane; Multi-pass membrane protein. Apical cell membrane; Multi-pass membrane protein.
  • 蛋白家族:
    SLC12A transporter family
  • 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
  • 數(shù)據(jù)庫鏈接:

    HGNC: 10912

    OMIM: 263800

    KEGG: hsa:6559

    STRING: 9606.ENSP00000402152

    UniGene: Hs.669115



主站蜘蛛池模板: 成人性生交大片免费看vr| 午夜男女xx00视频福利| 色偷偷亚洲男人本色| 成人午夜国产内射主播| 久久亚洲道色宗和久久| 最新亚洲一卡二卡三卡四卡| 国内精品久久久久久不卡影院| 日本少妇毛茸茸高潮| 好爽毛片一区二区三区四| 免费无码又爽又刺激一高潮| 免费无码又爽又刺激毛片| 性按摩玩人妻hd中文字幕| 日本欧美大码a在线观看| a 'v片欧美日韩在线| 成人午夜福利免费体验区| 国产成人精品无码播放| 色播亚洲视频在线观看| 国产成人精品久久一区二区| 久久日本片精品aaaaa国产| 久久99国产乱子伦精品免费| 日韩精品无码一本二本三本色| 日韩av无码一区二区三区无码| 插一插射一射视频| 狠狠色噜噜狠狠狠狠777米奇| 77777五月色婷婷丁香视频| 激情国产av做激情国产爱| 亚洲色成人中文字幕网站| 丰满少妇被猛烈进入| 又黄又爽又色的免费网站| 欧精国精产品一区| 理论片87福利理论电影| 永久免费男同av无码入口| 久久综合久中文字幕青草| 少妇被爽到高潮动态图| 18禁无码永久免费无限制网站| 国产草莓视频无码a在线观看 | 无码中文字幕日韩专区| 日韩综合亚洲色在线影院| 丰满少妇被猛烈进入试看| 日本最新免费二区三区| 成人无码嫩草影院|