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Acrocephalosyndactyly 3 Protein
[Expressed in placenta and a subset of adult mesodermal tissues by human TWIST1 Gene (bHLH Family), 202-aa 21-kDa Twist Related Protein 1 is a probable homodimeric nuclear bHLH transcription factor containing a bHLH domain, with similarity to Dermo1, and implicated in negative regulation of cell determination and differentiation in myogenic, osteogenic, and neurogenic lineages. Efficient DNA binding requires dimerization with another bHLH protein. TWIST1 inhibits myogenesis by sequestering E proteins, inhibiting transactivation by MEF2, and inhibiting DNA-binding by MYOD1 through physical interaction probably involving the basic domains of both proteins. TWIST1 also represses expression of proinflammatory cytokines, such as TNFA and IL1B. TWIST1 defects cause Saethre-Chotzen syndrome, Robinow-Sorauf syndrome, and Baller-Gerold syndrome. (NCI) ( NCI )]
UMLS (NCI) C0533325- Amino Acid, Peptide, or Protein
- Biologically Active Substance
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