| 别名 | TWIST1, ACS3, bHLHa38, BPES2, BPES3 |
| 基因名称 | TWST1 |
| 蛋白名称 | Twist-related protein 1 (Class A basic helix-loop-helix protein 38) (bHLHa38) (H-twist) |
| 推荐应用 | |
| 反应物种 | Human,Mouse,Rat, |
| 存储缓冲液 | PBS, 50% glycerol, 0.05% Proclin 300, 0.05%BSA |
| Human Gene Link | 7291 |
| Human Swissprot No. | Q15672 |
| Mouse Swissprot No. | P26687 |
| 特异性 | endogenous |
| 稀释度 | WB 1:1000-1:2500； |
| 参考分子量 | MW(Observed):26kD |
| 预测分子量 | MW(Calculated):21kD |
| 运输及保存条件 | -15°C to -25°C/1 year(Do not lower than -25°C) |
| 宿主 | Rabbit |
| 同种型 | IgG,Kappa |
| 背景介绍 | 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], |
| 细胞定位 | Nucleus |
| 功能 | 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.,Disease: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.,Disease: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.,Function:Probable transcription factor, which seems to be involved in the negative regulation of cellular determination and in the differentiation of several lineages including myogenesis, osteogenesis, and neurogenesis. 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 (By similarity). Also represses expression of proinflammatory cytokines such as TNFA and IL1B.,similarity:Contains 1 basic helix-loop-helix (bHLH) domain.,subunit:Efficient DNA binding requires dimerization with another bHLH protein. Homodimer.,tissue specificity:Subset of mesodermal cells., |
| 纯化 | Protein A |
| Clonality | Monoclonal |
| 修饰类型 | Unmodified |
| 细胞定位 | Nucleus |
| 组织表达 | Subset of mesodermal cells. |
| 研究领域 | >>Proteoglycans in cancer |
周一至周日 8:00-18:00
