Heart- and neural crest derivatives-expressed protein 1 (HAND1)

Heart- and neural crest derivatives-expressed protein 1 (HAND1) is a basic helix-loop-helix (bHLH) transcription factor that plays a critical role in the development of the heart, extraembryonic tissues including the placenta, and neural crest derivatives. HAND1 is asymmetrically expressed during embryogenesis and is indispensable for cardiac morphogenesis, influencing processes such as ventricular chamber specification, septation, and conduction system development. Mutations or altered expression of HAND1 in animal models and humans cause a spectrum of congenital heart defects, including hypoplastic left heart syndrome, and are implicated in craniofacial abnormalities. HAND1 is also required for trophoblast differentiation in the placenta and participates in yolk sac vasculogenesis. Its dosage and expression must be precisely regulated during development, and no drugs are currently known to directly modulate HAND1 activity as it is a transcription factor, not a surface or catalytic target[1][2][3].

Other names

BHLHA27EHANDbHLHa27eHANDThing1HxtTHING1