TWIST2
Twist-related protein 2 is a protein that in humans is encoded by the TWIST2 gene. The protein encoded by this gene is a basic helix-loop-helix transcription factor and shares similarity with another bHLH transcription factor, TWIST1. Basic helix-loop-helix transcription factors have been implicated in cell lineage determination and differentiation. It is thought that during osteoblast development, this protein may inhibit osteoblast maturation and maintain cells in a preosteoblast phenotype.Interactions
TWIST2 has been shown to interact with SREBF1.Clinical significance
Mutations in the TWIST2 gene that alter DNA-binding activity through both dominant-negative and gain-of-function effects are associated with ablepharon macrostomia syndrome and Barber–Say syndrome.
