HES 7 Gene, Hes family bHLH transcription factor 7 also known as HES7 or bHLHb37 is a protein coding mammalian gene.
Hes7 has a basic helix-loop-helix structure, and encodes a member of the hairy and enhancer of split family of bHLH transcription factors.
Function
The HES7 codes the HES7 protein which works in tandem with NOTCH1 in the Notch Pathway in development of fetal somites. Specifically, HES7 is responsible for somite segmentation, or the separation of future vertebrae in an anterior posterior fashion. Somites will go on to be vertebrae, ribs, or the dermis, and are regulated by the oscillatory activity of both HES7 and NOTCH 1. HES7 acts antagonistically to control the activity of NOTCH1, and in the absence of HES7, somites fuse which results in fused vertebrae or ribs. The HES7 protein turns off (represses) the activity of genes in the Notch pathway, such as downstream effector Lunatic Fringe, an important transcription factor in the clock wavefront mechanism. Mutation of the HES7 gene causes spondylocostal dysostosis, which is characterized by abnormal development of bones in the spine and ribs. Improper segmentation due to the mutation is common.