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GTF2IRD1 Rabbit pAb (bs-16354R)  
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50ul/1180.00元
100ul/1980.00元
200ul/2800.00元
大包裝/詢價
產(chǎn)品編號 bs-16354R
英文名稱 GTF2IRD1 Rabbit pAb
中文名稱 通用轉(zhuǎn)錄因子III/WBSCR11抗體
別    名 CREAM1; General transcription factor II I repeat domain containing protein 1; General transcription factor II-I repeat domain-containing protein 1; General transcription factor III; GT2D1_HUMAN; GTF2I repeat domain containing protein 1; GTF2I repeat domain-containing protein 1; GTF2IRD1; GTF3; Muscle TFII I repeat domain-containing protein 1; Muscle TFII-I repeat domain-containing protein 1; MUSTRD1; MusTRD1/BEN; RBAP2; Slow muscle fiber enhancer binding protein; Slow-muscle-fiber enhancer-binding protein; USE B1 binding protein; USE B1-binding protein; WBSCR11; WBSCR12; Williams Beuren syndrome chromosome region 11 protein; Williams-Beuren syndrome chromosomal region 11 protein; Williams-Beuren syndrome chromosomal region 12 protein.  
研究領(lǐng)域 細胞生物  轉(zhuǎn)錄調(diào)節(jié)因子  表觀遺傳學  
抗體來源 Rabbit
克隆類型 Polyclonal
交叉反應(yīng) (predicted: Human,Mouse,Rat,Pig,Sheep,Cow,Dog,Horse)
產(chǎn)品應(yīng)用 IHC-P=1:100-500,IHC-F=1:100-500,IF=1:100-500,ICC/IF=1:100-500,ELISA=1:5000-10000
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.
理論分子量 106 kDa
檢測分子量
細胞定位 細胞核 
性    狀 Liquid
濃    度 1mg/ml
免 疫 原 KLH conjugated synthetic peptide derived from human GTF2IRD1: 801-900/959 
亞    型 IgG
純化方法 affinity purified by Protein A
緩 沖 液 0.01M TBS (pH7.4) with 1% BSA, 0.02% Proclin300 and 50% Glycerol.
保存條件 Shipped at 4℃. Store at -20℃ for one year. Avoid repeated freeze/thaw cycles.
注意事項 This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
PubMed PubMed
產(chǎn)品介紹 The protein encoded by this gene contains five GTF2I-like repeats and each repeat possesses a potential helix-loop-helix (HLH) motif. It may have the ability to interact with other HLH-proteins and function as a transcription factor or as a positive transcriptional regulator under the control of Retinoblastoma protein. This gene plays a role in craniofacial and cognitive development and mutations have been associated with Williams-Beuren syndrome, a multisystem developmental disorder caused by deletion of multiple genes at 7q11.23. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010]

Function:
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.

Subcellular Location:
Nucleus.

Tissue Specificity:
Highly expressed in adult skeletal muscle, heart, fibroblast, bone and fetal tissues. Expressed at lower levels in all other tissues tested.

DISEASE:
Note=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.

Similarity:
Belongs to the TFII-I family.
Contains 5 GTF2I-like repeats.

SWISS:
Q9UHL9

Gene ID:
9569

Database links:

Entrez Gene: 9569 Human

Entrez Gene: 57080 Mouse

Entrez Gene: 246770 Rat

Omim: 604318 Human

SwissProt: Q9UHL9 Human

SwissProt: Q9JI57 Mouse

Unigene: 647056 Human

Unigene: 332735 Mouse



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