The TWIST1 gene provides instructions for making a protein that plays an important role in early development. This protein is a transcription factor, which means that it attaches (binds) to specific regions of DNA and controls the activity of particular genes. Specifically, the TWIST1 protein is part of a large protein family called basic helix-loop-helix (bHLH) transcription factors. Each of these proteins includes a region called the bHLH domain, which determines the protein’s 3-dimensional shape and enables it to target particular sequences of DNA. The bHLH family of transcription factors helps regulate the development of many organs and tissues before birth.
During embryonic development, the TWIST1 protein is essential for the formation of cells that give rise to bone, muscle, and other tissues in the head and face. The TWIST1 protein also plays a role in the early development of the arms and legs. Researchers believe that the TWIST1 protein regulates several genes that are known to be key players in bone formation, including the FGFR2 and RUNX2 genes.
Other Names
acrocephalosyndactyly 3; ACS3; B-HLH DNA binding protein; CRS1; H-twist; SCS; Transcription factor TWIST; TWIST; twist basic helix-loop-helix transcription factor 1; Twist Homolog; twist homolog 1 (acrocephalosyndactyly 3; Saethre-Chotzen syndrome) (Drosophila); twist homolog 1 (Drosophila); TWST1_HUMAN
Related Genetics Topics
Identifiers
- NCBI Gene: 7291
- OMIM: 601622
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
