TBX22 Antibody
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货号:CSB-PA207146
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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.:Q9Y458
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基因名:TBX22
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别名:TBX22 antibody; TBOX22 antibody; T-box transcription factor TBX22 antibody; T-box protein 22 antibody
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宿主:Rabbit
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反应种属:Human
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免疫原:Fusion protein of Human TBX22
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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,IHC
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推荐稀释比:
Application Recommended Dilution ELISA 1:1000-1:5000 IHC 1:25-1:100 -
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:Probable transcriptional regulator involved in developmental processes. This is major determinant crucial to palatogenesis.
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基因功能参考文献:
- Findings indicate the important role of T-box 22 protein (TBX22) in familial cases with X-linked cleft palate. PMID: 29932061
- we analysed two TBX22 promoter rs7055763 and rs41307258 single-nucleotide polymorphisms (SNPs) in 173 patients with NSCLP and 176 normal controls of south Indian origin using Kbioscience KASPar chemistry PMID: 25918826
- These results suggest that a loss-of-function mutation in the X-linked TBX22 promoter may cause the cleft palate through disruption of TBX22-ETS-1 pathway. PMID: 25373698
- TBX22 is the gene underlying Abruzzo-Erickson syndrome. PMID: 22784330
- 5 putative missense mutations were identified, 3 located in T-box binding domain (R120Q, R126W, and R151L) that affects DNA binding and/or transcriptional repression. 2 novel C-terminal mutations, P389Q and S400Y, did not affect TBX22 activity. PMID: 21248356
- Craniofacial expression of human and murine TBX22 correlates with the cleft palate and ankyloglossia (CPX) phenotype observed in CPX patients. PMID: 12374769
- Four novel TBX22 splice site mutations in North American and Brazilian cleft palate families. PMID: 14729838
- TBX22 is a target for the small ubiquitin-like modifier SUMO-1 and this modification is required for TBX22 repressor activity. PMID: 17846996
- TBX22 mutations are responsible for a significant proportion of Thai non-syndromic cleft palate cases. PMID: 17868388
- Analysis of the TBX22 promoter region revealed seven sequence variants, two of which are associated with cleft palate; this effect is stronger in a subgroup stratified for the presence of ankyloglossia. PMID: 19648124
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相关疾病:Cleft palate with or without ankyloglossia, X-linked (CPX); Abruzzo-Erickson syndrome (ABERS)
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亚细胞定位:Nucleus.
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组织特异性:Seems to be expressed at a low level.
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数据库链接:
HGNC: 11600
OMIM: 300307
KEGG: hsa:50945
STRING: 9606.ENSP00000362390
UniGene: Hs.374253
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