Twist-related protein 1

Twist-related protein 1 (also known as TWIST1) is a protein that in humans is encoded by the TWIST1 gene. This protein plays a crucial role in embryogenesis and tissue development.

Function

TWIST1 is a basic helix-loop-helix (bHLH) transcription factor that can bind E-box DNA sequences. It is involved in various cellular processes, including cell differentiation, cell proliferation, and apoptosis. TWIST1 is also essential for normal skeletal development.

Clinical significance

Mutations in the TWIST1 gene are associated with Saethre-Chotzen syndrome, a genetic disorder characterized by craniosynostosis (premature fusion of the skull bones) and other skeletal abnormalities. In addition, overexpression of TWIST1 has been observed in various types of cancer, where it promotes tumor progression and metastasis.

Structure

The TWIST1 protein consists of a basic helix-loop-helix domain, which allows it to bind DNA and regulate gene expression. It also contains a WR domain, which is thought to facilitate protein-protein interactions.

See also

• TWIST2
• Basic helix-loop-helix
• Saethre-Chotzen syndrome

References

This article is a stub related to medicine. You can help WikiMD by expanding it!