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.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Nucleus.
组织表达： Subset of mesodermal cells.
tag： hot
科研货号： PLA008720
TWST1 Polyclonal Antibody
Catalog NoPLA008720
Product information
基因名称： TWIST1 BHLHA38 TWIST
蛋白名称： Twist-related protein 1 (Class A basic helix-loop-helix protein 38) (bHLHa38) (H-twist)
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.,
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