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Rabbit Anti-TWIST/FITC Conjugated antibody
background:
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:36750]; 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:12620]. 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.
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
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
转录因子
Twist蛋白是属于碱性螺旋-环-螺旋蛋白家族中的高度保守的转录因子,Twist在抑制肿瘤凋亡,促进肿瘤细胞的转移发挥一定的作用。
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