MESP2 : mesoderm posterior bHLH transcription factor 2
Description
The MESP2 (mesoderm posterior bHLH transcription factor 2) is a protein-coding gene located on chromosome 15.
The MESP2 gene provides instructions for making a transcription factor, a protein that binds to specific regions of DNA and controls the activity of particular genes. MESP2 controls the activity of genes in the Notch pathway, crucial for embryonic development, particularly the development of the vertebrae. MESP2 and the Notch pathway are involved in separating future vertebrae during early development in a process called somite segmentation. The exact mechanism of somite segmentation is unclear but requires the activity of several proteins in the Notch pathway, including NOTCH1 and MESP2, to oscillate in a specific pattern. MESP2 regulates Notch activity by activating genes in the pathway, ultimately blocking the activity of NOTCH1. MESP2 seems to mark the boundary separating future vertebrae.
MESP2 is also known as SCDO2, bHLHc6.
Associated Diseases
- Spondylocostal dysostosis 2, autosomal recessive
- Autosomal recessive spondylocostal dysostosis
- Spondylocostal dysostosis, autosomal recessive 1
- Spondylothoracic dysostosis
- Spondylocostal dysostosis
