CLDN14 Antibody
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货号:CSB-PA669859
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规格:¥1100
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图片:
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其他:
产品详情
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Uniprot No.:O95500
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基因名:CLDN14
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别名:CLDN14; UNQ777/PRO1571; Claudin-14
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宿主:Rabbit
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反应种属:Human,Mouse
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免疫原:Synthetic peptide of Human CLDN14
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免疫原种属:Homo sapiens (Human)
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标记方式:Non-conjugated
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抗体亚型:IgG
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纯化方式:Antigen affinity purification
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浓度:It differs from different batches. Please contact us to confirm it.
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保存缓冲液:-20°C, pH7.4 PBS, 0.05% NaN3, 40% Glycerol
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产品提供形式:Liquid
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应用范围:ELISA,WB
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推荐稀释比:
Application Recommended Dilution ELISA 1:1000-1:10000 WB 1:200-1:1000 -
Protocols:
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储存条件:Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
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货期: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.
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靶点详情
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功能:Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity.
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基因功能参考文献:
- This study suggested considerable genetic heterogeneity in the causation of hearing loss in Dhadkai. Recessive mutations were observed in at least three genes causing hearing loss: OTOF (p.R708X), SLC26A4 (p.Y556X) and CLDN14 (p.V85D). Mutation p.R708X appeared to be the major cause of hearing impairment in Dhadkai. PMID: 29434063
- CLDN14 might not be a major causative gene for NSHL in Chinese populations, which would contribute to fully understanding the genetic cause of NSHL in the East Asian populations PMID: 29447821
- Our data suggest that children with the INSM1 binding site within the CLDN14 risk haplotype have a higher likelihood of hypercalciuria and kidney stones. Enhanced CLDN14 expression may play a role in the pathophysiology of their hypercalciuria. PMID: 28229505
- All hearing impaired individuals, including the proband, are homozygous for a pathogenic variant of CLDN14, but this only explains the deafness. PMID: 27629923
- Extensive clinical recruitment and targeted screening suggest that CLDN14 p.(Ala163Val) represents a major founder variant for prelingual sensorineural hearing loss in the Newfoundland population. PMID: 27838790
- CLDN14 is a novel direct target of EZH2-mediated H3K27ME3 and plays role in EZH2-H3K27ME3-mediated hepatocellular carcinoma aggressiveness. PMID: 27207647
- The rs170183 was correlated with a decline in claudin 14 expression in both lymphoblastoid cell lines and T cells. PMID: 26842849
- Rs1801725 (Ala986-Ser), rs1042636 (Arg990Gly) of CaSR gene and rs219778, rs219780 (Thr229Thr) of CLDN14 gene were significantly associated with kidney stone disease in patients from the Eastern part of India. PMID: 26107257
- Claudin 14 expression was up-regulated in gastric cancer. PMID: 24325792
- Data suggest a possible role for Claudin14 in urinary calcium excretion. PMID: 23991001
- CLDN14 mutations can contribute to the aetiology of childhood/congenital deafness in Moroccan patients. PMID: 23590985
- Human Cldn-8 and -14 were shown to convey Clostridium perfringens enterotoxin-mediated cytotoxicity at pathophysiologically relevant concentrations of this toxin, although ~2-to-10-fold less efficiently than Cldn-4. PMID: 23322640
- OPRM1 genetic polymorphisms are associated with the plasma concentration of cotinine in a Taiwanese MMT cohort. Carriers with the major allele of SNP rs1799971 had a higher plasma cotinine concentration. PMID: 23235333
- The hearing loss due to novel CLDN14 mutations is prelingual, severe-to-profound with greater loss in the high frequencies. PMID: 22246673
- The CLDN14 promoter is activated by Trichostatin A (TSA) treatment according to promoter reporter assays in HEK 293 cells. PMID: 20494980
- Individuals with mutations of CLDN14 may have different degrees of hearing loss and the loss is greater at higher frequencies. PMID: 20811388
- The palmitoylation of claudin-14 is required for efficient localization into tight junctions but not stability or strand assembly. PMID: 15769849
- The ability of CLDN14 to be recruited to these junctions is crucial for the hearing process. PMID: 15880785
- Common, synonymous variants in the CLDN14 gene that associate with kidney stones, were discovered. PMID: 19561606
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相关疾病:Deafness, autosomal recessive, 29 (DFNB29)
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亚细胞定位:Cell junction, tight junction. Cell membrane; Multi-pass membrane protein.
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蛋白家族:Claudin family
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组织特异性:Liver, kidney. Also found in ear.
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数据库链接:
HGNC: 2035
OMIM: 605608
KEGG: hsa:23562
STRING: 9606.ENSP00000339292
UniGene: Hs.660278
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