HAND1
Description
The HAND1 (heart and neural crest derivatives expressed 1) is a protein-coding gene located on chromosome 5.
The HAND1 gene encodes a protein known as Heart- and neural crest derivatives-expressed protein 1, which belongs to the basic Helix-loop-helix (bHLH) family of transcription factors. This gene is essential for the development and differentiation of various tissues including heart muscle cells, placental trophoblast, and blood vessels in the yolk sac. HAND1 interacts with other bHLH proteins, forming dimers that control gene expression. Disruptions in HAND1 expression, either by over- or under-expression, can lead to severe developmental abnormalities, particularly in the heart and facial structures. For example, knockout studies in mice have shown that HAND1 deficiency results in embryonic death and severe heart defects such as incomplete heart looping, impaired ventricular development, and defective chamber separation.
HAND1, a transcription factor, plays a crucial role in the development of trophoblast giant cells and in the formation of the heart. It binds to a specific DNA sequence known as a non-canonical E-box (5'-NRTCTG-3') and functions as a repressor of SOX15 transcription. There is evidence suggesting that HAND1 might be essential for the sustained expression of genes specifically expressed in the heart in adults.
HAND1 is also known as Hxt, Thing1, bHLHa27, eHand.
