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TWIST/BF680 (bs-2441R-BF680)  
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50ul/1098.00元
100ul/1880.00元
200ul/2900.00元
大包装/询价
产品编号 bs-2441R-BF680
英文名称 TWIST/BF680
中文名称 BF680标记的TWIST蛋白抗体
别    名 ACS3; B-HLH DNA binding protein; bHLHa38; BPES2; BPES3; Class A basic helix-loop-helix protein 38; CRS1; H-twist; OTTHUMP00000116043; SCS; Twist basic helix loop helix transcription factor 1; Twist homolog 1 (Drosophila); Twist homolog 1; TWIST homolog of drosophila; Twist related protein 1; Twist-related protein 1; Twist1; TWST1_HUMAN.   
研究领域 肿瘤  免疫学  神经生物学  转录调节因子  
抗体来源 Rabbit
克隆类型 Polyclonal
交叉反应
产品应用
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.
理论分子量 23kDa
性    状 Liquid
浓    度 1mg/ml
免 疫 原 KLH conjugated synthetic peptide derived from human TWIST 
亚    型 IgG
纯化方法 affinity purified by Protein A
缓 冲 液 0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol.
保存条件 Shipped at 4℃. Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
注意事项 This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
PubMed PubMed
产品介绍 Basic helix-loop-helix (bHLH) transcription factors have been implicated in cell lineage determination and differentiation. The protein encoded by this gene is a bHLH transcription factor and shares similarity with another bHLH transcription factor, Dermo1. The strongest expression of this mRNA is in placental tissue; in adults, mesodermally derived tissues express this mRNA preferentially. Mutations in this gene have been found in patients with Saethre-Chotzen syndrome. [provided by RefSeq, Jul 2008].

Function:
Acts as a transcriptional regulator. Inhibits myogenesis by sequestrating E proteins, inhibiting trans-activation by MEF2, and inhibiting DNA-binding by MYOD1 through physical interaction. This interaction probably involves the basic domains of both proteins. Also represses expression of proinflammatory cytokines such as TNFA and IL1B. Regulates cranial suture patterning and fusion. Activates transcription as a heterodimer with E proteins. Regulates gene expression differentially, depending on dimer composition. Homodimers induce expression of FGFR2 and POSTN while heterodimers repress FGFR2 and POSTN expression and induce THBS1 expression. Heterodimerization is also required for osteoblast differentiation.

Subunit:
Efficient DNA binding requires dimerization with another bHLH protein. Homodimer or heterodimer with E proteins such as TCF3. ID1 binds preferentially to TCF3 but does not interact efficiently with TWIST1 so ID1 levels control the amount of TCF3 available to dimerize with TWIST1 and thus determine the type of dimer formed.

Subcellular Location:
Nucleus.

Tissue Specificity:
Subset of mesodermal cells

DISEASE:
Defects in TWIST1 are a cause of Saethre-Chotzen syndrome (SCS) [MIM:101400]; also known as acrocephalosyndactyly type 3 (ACS3). SCS is a craniosynostosis syndrome characterized by coronal synostosis, brachycephaly, low frontal hairline, facial asymmetry, hypertelorism, broad halluces, and clinodactyly.
Defects in TWIST1 are the cause of Robinow-Sorauf syndrome (RSS) [MIM:180750]; also known as craniosynostosis-bifid hallux syndrome. RSS is an autosomal dominant defect characterized by minor skull and limb anomalies which is very similar to Saethre-Chotzen syndrome.
Defects in TWIST1 are the cause of craniosynostosis type 1 (CRS1) [MIM:123100]. Craniosynostosis consists of premature fusion of one or more cranial sutures, resulting in an abnormal head shape.

Similarity:
Contains 1 basic helix-loop-helix (bHLH) domain.

SWISS:
Q15672

Gene ID:
7291

Database links:

Entrez Gene: 7291 Human

Entrez Gene: 22160 Mouse

Entrez Gene: 85489 Rat

Omim: 601622 Human

SwissProt: Q15672 Human

SwissProt: P26687 Mouse

Unigene: 66744 Human

Unigene: 3280 Mouse

Unigene: 161904 Rat



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