Predicted to enable several functions, including DNA-binding transcription factor activity, RNA polymerase II-specific; RNA polymerase II transcription regulatory region sequence-specific DNA binding activity; and chromatin binding activity. Involved in negative regulation of osteoblast differentiation and positive regulation of cell migration. Located in cytoplasm; nucleolus; and nucleoplasm. Implicated in Barber-Say syndrome and ablepharon macrostomia syndrome.
RGD Description
The protein encoded by this gene is a basic helix-loop-helix type transcription factor and shares similarity with Twist. This protein may inhibit osteoblast maturation and maintain cells in a preosteoblast phenotype during osteoblast development. This gene may be upregulated in certain cancers. Mutations in this gene cause focal facial dermal dysplasia 3, Setleis type. Two transcript variants encoding the same protein have been found. [provided by RefSeq, Apr 2014]