Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Involved in mesodermal cell fate specification; positive regulation of transcription by RNA polymerase II; and vulval cell fate specification. Predicted to be located in nucleus. Expressed in several structures, including M.dla; M.dra; M.vla; body wall muscle cell from M lineage; and enteric muscle. Used to study Saethre-Chotzen syndrome. Human ortholog(s) of this gene implicated in several diseases, including Barber-Say syndrome; Sweeney-Cox syndrome; and synostosis (multiple). Is an ortholog of human TWIST2 (twist family bHLH transcription factor 2).
Inferred by orthology to human genes with DO annotation (HGNC:12428)
Disease_relevance
Twist1 is a well-conserved bHLH type transcriptional regulator protein present across species including humans, involved in the development of the mesoderm; mutations in Twist1 are implicated in the craniofacial disorder Saethre-Chotzen syndrome, characterized by the premature fusion of certain skull bones (craniosynostosis), preventing the skull from growing normally and affecting the shape of the head and face; studies with the C. elegans Twist ortholog indicate that the semi-dominant mutant (n2170) shares the muscle development defective phenotypes with the loss-of-function mutant (nr2061); further, when mutations similar to Saethre-Chotzen syndrome mutations were introduced into elegans Twist, similar muscle defective phenotypes were observed, suggesting that Saethre-Chotzen syndrome may be caused, in some cases, by dominant negative proteins, rather than by haploinsufficiency of the locus.
Map position created from combination of previous interpolated map position (based on known location of sequence) and allele information. Therefore this is not a genetic map position based on recombination frequencies or genetic experiments. This was done on advice of the CGC.