TWIST1 acts as a transcriptional regulator. It inhibits myogensis by sequestering E proteins, inhibiting trans-activation by MEF2, and inhibiting DNA-binding by MYOD1 through physical interaction. TWIST1 also represses proinflammatory cytokines such as TNFA and IL1B. TWIST also regulates cranial suture patterning and fusion and gene expression differentially depending on dimer composition. Mutations in the gene are implicated in Saethre-Chotzen syndrome, a disease characterized by coronal synostosis, brachycephaly, low front hairline, facial asymmetry, hypertelorism, broad halluces, and clinodactyly.
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Protein Aliases: B-HLH DNA binding protein; bHLHa38; Class A basic helix-loop-helix protein 38; H-twist; p ACS3; twist basic helix-loop-helix transcription factor 1; twist homolog 1; TWIST homolog of drosophila; Twist-related protein 1
Gene Aliases: ACS3; BHLHA38; BPES2; BPES3; CRS; CRS1; CSO; SCS; TWIST; TWIST1
UniProt ID: (Human) Q15672
Entrez Gene ID: (Human) 7291
Molecular Function: basic helix-loop-helix transcription factor