Twist1 - twist basic helix-loop-helix transcription factor 1

Basic helix-loop-helix (bHLH) transcription factors have been implicated in cell lineage determination and differentiation. This gene encodes a bHLH transcription factor that is evolutionarily conserved from invertebrates to humans, and was originally identified in Drosophila as an essential gene involved in early mesoderm development and dorsal-ventral patterning in the embryo. This protein plays a role in cancer by regulating the epithelial-mesenchymal transition (EMT), a process that is critical for metastasis initiation, and promoting tumor progression. Mutations in the human gene are associated with Saethre-Chotzen syndrome (SCS). Mice with heterozygous mutations in this gene exhibit cranofacial and structural defects similar to those seen in human SCS patients. [provided by RefSeq, Sep 2015]