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Immunogen sequence: PQSYEELQTQ RVMANVRERQ RTQSLNEAFA ALRKIIPTLP SDKLSKIQTL KLAARYIDFL YQVLQSDELD SKMASCSYVA HERLSYAFSV WRMEGAWSMS ASH
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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: 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
基因别名: ACS3; BHLHA38; BPES2; BPES3; CRS; CRS1; CSO; SCS; TWIST; TWIST1
UniProt ID: (Human) Q15672
Entrez Gene ID: (Human) 7291