免疫原
Synthesized peptide derived from part region of human protein
特异性
TWST1 Polyclonal Antibody detects endogenous levels of protein.
组成（Formulation）
Liquid in PBS containing 50% glycerol, and 0.02% sodium azide.
稀释比例
WB 1:500-2000 ELISA 1:5000-20000
纯化工艺（Immunogen）
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
背景（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],
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 de
基因名称（Gene Name）
TWIST1 BHLHA38 TWIST
蛋白名称
Twist-related protein 1 (Class A basic helix-loop-helix protein 38) (bHLHa38) (H-twist)
其他名称
ACS3;BPES2;BPES3;CRS;CRS1;CSO;SCS;SWCOS;TWIST;bHLHa38;M-Twist;Pde;Ska1;Ska;pdt;TWST1_HUMAN;TWIST1;Class A basic helix-loop-helix protein 38 (bHLHa38);H-twist;TWST1_MOUSE;twist family bHLH transcription factor 1;blepharophimosis;epicanthus inversus and ptosis 3;acrocephalosyndactyly 3;twist homolog 1 (Drosophila);twist basic helix-loop-helix transcription factor 1;craniosynostosis;Saethre-Chotzen syndrome;TWST1;TWIST1 BHLHA38 TWIST;Twist-related protein 1 (Class A basic helix-loop-helix protein 38) (bHLHa38) (H-twist)
Fields
>>Proteoglycans in cancer
组织表达
Subset of mesodermal cells.
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