About HES / Hairy and Enhancer of Split:
Hairy and Enhancer of Split, also known as the HES2 or HES7 gene, is a member of the Basic helix-loop-helix proteins group that is found at chromosome 17 of the human body at position 13.1, with a start code of 8,120,592 bp and end code of 8,124,106 bp.
The Hairy and Enhance of Split gene is also known as SCDO4, bHLHb37, hes family bHLH transcription factor 7, HES7 gene. Its Entrez ID is 84667 and its Ensembl genome database project coding is ENSG00000179111. The molecular weight is 24898.78.
Expressed cyclically in the presomitic mesoderm, it is a part of the Notch signalling pathway and the self-regulated gene, which can bind to its own promote, is involved in the segmentation of somites. When the HES7 gene is mutated, it can lead to Spondylocostal dysostosis, as well as problems with the heart, ribs, and spine.
Hairy and Enhancer of Split Mechanism
HES7 has 62 known orthologues and expression rates can fluctuate significantly over oscillating two-hour cycles, which are regulated by a negative feedback loop. It, subsequently, represses the expression of N-box or E-box containing genes, as well as genes that have an E47 transcription factor. The function of the HES7 gene is determined primarily by the protein’s half-life. Inaccuracy of expression over the two-hour cycles is the activator for mutations.
In addition to the Notch signalling pathway, the bHLH-type repressor gene additionally shows a PI3K-Akt signaling pathway while it is capable of protein dimerization activity, as well as the factor binding properties.