ANTI-TWIST HOMOLOG 1 (ACROCEPHALOSYNDACTYLY 3, SAETHRE-CHOTZEN SYNDROME)

Biochem/physiol Actions

Basic helix-loop-helix (bHLH) transcription factors have been implicated in cell lineage determination and differentiation.TWIST1 is a bHLH transcription factor and shares similarity with another bHLH transcription factor, Dermo1. The strongest expression of this mRNA is in placental tissue; in adults, mesodermally derived tissues express this mRNA preferentially. Mutations in this gene have been found in patients with Saethre-Chotzen syndrome.