Hairy And Enhancer Of Split 7 (HES7)

HES7 encodes a member of the hairy and enhancer of split family of bHLH transcription factors. The mouse ortholog of this gene is regulated by Notch signaling. The protein functions as a transcriptional repressor, and is implicated in correct patterning of the axial skeleton. A mutation in this gene has been shown to result in spondylocostal dysostosis. The deduced mouse and human proteins contain 225 amino acids, and both have an N-terminal basic helix-loop-helix (bHLH) domain, a central 'orange' domain, and a conserved C-terminal WRPW sequence. Human and mouse HES7 are identical in the bHLH domain and share 90.7% amino acid identity overall. Compared with other mouse HES proteins, Hes7 is most similar to Hes5, particularly in the bHLH and orange domains.