GTF2IRD1 Antibody
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中文名稱：GTF2IRD1兔多克隆抗體
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貨號：CSB-PA010018GA01HU
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規格：￥3,900
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其他：
產品詳情
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Uniprot No.：
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基因名：
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別名：CREAM1 antibody; General transcription factor II I repeat domain containing protein 1 antibody; General transcription factor II-I repeat domain-containing protein 1 antibody; General transcription factor III antibody; GT2D1_HUMAN antibody; GTF2I repeat domain containing protein 1 antibody; GTF2I repeat domain-containing protein 1 antibody; GTF2IRD1 antibody; GTF3 antibody; Muscle TFII I repeat domain-containing protein 1 antibody; Muscle TFII-I repeat domain-containing protein 1 antibody; MUSTRD1 antibody; MusTRD1/BEN antibody; RBAP2 antibody; Slow muscle fiber enhancer binding protein antibody; Slow-muscle-fiber enhancer-binding protein antibody; USE B1 binding protein antibody; USE B1-binding protein antibody; WBSCR11 antibody; WBSCR12 antibody; Williams Beuren syndrome chromosome region 11 protein antibody; Williams-Beuren syndrome chromosomal region 11 protein antibody; Williams-Beuren syndrome chromosomal region 12 protein antibody
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宿主：Rabbit
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反應種屬：Human,Mouse,Rat
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免疫原：Human GTF2IRD1
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免疫原種屬：Homo sapiens (Human)
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抗體亞型：IgG
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純化方式：Antigen Affinity purified
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濃度：It differs from different batches. Please contact us to confirm it.
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保存緩沖液：PBS with 0.1% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
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產品提供形式：Liquid
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應用范圍：ELISA,WB,IHC
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Protocols：
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儲存條件：Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
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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.
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用途：For Research Use Only. Not for use in diagnostic or therapeutic procedures.
產品評價
相關產品
靶點詳情
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功能：May be a transcription regulator involved in cell-cycle progression and skeletal muscle differentiation. May repress GTF2I transcriptional functions, by preventing its nuclear residency, or by inhibiting its transcriptional activation. May contribute to slow-twitch fiber type specificity during myogenesis and in regenerating muscles. Binds troponin I slow-muscle fiber enhancer (USE B1). Binds specifically and with high affinity to the EFG sequences derived from the early enhancer of HOXC8.
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基因功能參考文獻：
- The mis-regulation of genes downstream of GTF2IRD1, including TbetaR2 and BMPR1b, also individually promoted mammary cancer development, and silencing of TbetaR2 suppressed GTF2IRD1-driven tumor promotion. PMID: 27239038
- Study demonstrates a significant association between SLE in Chinese Han population and the GTF2I rs117026326 T allele/GTF2IRD1 rs4717901 C allele. PMID: 26320362
- GTF2IRD1 binding partners are mostly involved in chromatin modification and transcriptional regulation, whilst others indicate an unexpected role in connection with the primary cilium. PMID: 26275350
- GTF2IRD1 is SUMOylated by the SUMO E2 ligase UBC9 and the level of SUMOylation is enhanced by PIASxbeta. PMID: 23145142
- This study provided evidences that insufficiency of GTF2IRD1 protein contributes to abnormalities of facial development, motor function and specific behavioural disorders that accompany Williams-Beuren syndrome. PMID: 22198572
- functional hemizygosity for the GTF2I and GTF2IRD1 genes is the main cause of the neurocognitive profile and some aspects of the gestalt phenotype of Williams-Beuren syndrome PMID: 19897463
- Data show the existence of a negative autoregulatory mechanism that controls the level of GTF2IRD1 transcription via direct binding of the GTF2IRD1 protein to a highly conserved region of the GTF2IRD1 promoter containing an array of three binding sites. PMID: 20007321
- characterization and involvement in slow muscle-specific gene expression PMID: 12475981
- role as a repressor of slow fiber-specific transcription through mechanisms involving direct interactions with MEF2C and the nuclear receptor co-repressor PMID: 12857748
- GTF2IRD1 and GTF2I have roles in causing deficits on visual spatial functioning PMID: 12865760
- human VEGFR-2 promoter is functionally counter-regulated by TFII-I and TFII-IRD1. PMID: 15941713
- GTF2IRD1 is a genetic determinant of mammalian craniofacial and cognitive development PMID: 16293761
- a regulator of slow fiber-specific genes PMID: 16494860
- functional analysis of human GTF2IRD1 in regulation of three genes (HOXC8, GOOSECOID and TROPONIN I) PMID: 17346708
- analysis of the consensus binding site for TFII-I family member BEN PMID: 18326499
- GTF2IRD1 is associated with Williams syndrome facies and visual-spatial construction. PMID: 19205026
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相關疾?。?/div>GTF2IRD1 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region. Haploinsufficiency of GTF2IRD1 may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease.亞細胞定位：Nucleus.蛋白家族：TFII-I family組織特異性：Highly expressed in adult skeletal muscle, heart, fibroblast, bone and fetal tissues. Expressed at lower levels in all other tissues tested.數據庫鏈接：
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