TWIST1 : twist family bHLH transcription factor 1

Description

The TWIST1 (twist family bHLH transcription factor 1) is a protein-coding gene located on chromosome 7.

The TWIST1 gene provides instructions for making a protein that plays a crucial role in early development. This protein is a transcription factor, meaning it attaches to specific regions of DNA and controls the activity of certain genes. It belongs to a large protein family called basic helix-loop-helix (bHLH) transcription factors, characterized by a bHLH domain that determines its 3-dimensional shape and allows it to target specific DNA sequences. The bHLH family plays a critical role in the development of many organs and tissues before birth. During embryonic development, the TWIST1 protein is essential for the formation of cells that develop into bone, muscle, and other tissues in the head and face. It also participates in the early development of the arms and legs. Researchers believe that TWIST1 regulates several genes involved in bone formation, including FGFR2 and RUNX2.

TWIST1 acts as a transcriptional regulator, influencing the activity of other genes. It inhibits muscle cell formation by binding to and inactivating certain proteins (E proteins, MEF2, and MYOD1). It also suppresses the production of inflammatory molecules (TNFA and IL1B) and plays a role in shaping and fusing the bones of the skull. TWIST1 can form partnerships (dimers) with other proteins, and these partnerships affect its activity. When TWIST1 pairs with itself (homodimer), it promotes the expression of specific genes (FGFR2 and POSTN). When it pairs with different proteins (heterodimers), it can either repress these genes or activate the expression of another gene (THBS1). These partnerships are also important for bone cell development. TWIST1 can also suppress the activity of a protein complex that controls daily rhythms (NPAS2-BMAL1 heterodimer).

TWIST1 is also known as ACS3, BPES2, BPES3, CRS, CRS1, CSO, SCS, SWCOS, TWIST, bHLHa38.

Associated Diseases

WES Whole Exome Sequencing

Clinical Exome Sequencing