HES7 Blocking Peptide

This gene 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. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]

HES7: Transcriptional repressor. Represses transcription from both N box- and E box-containing promoters. May with HES1, cooperatively regulate somite formation in the presomitic mesoderm (PSM). May function as a segmentation clock, which is essential for coordinated somite segmentation. Defects in HES7 are the cause of spondylocostal dysostosis type 4 (SCDO4). A rare condition of variable severity characterized by vertebral and costal anomalies. The main feature include dwarfism, vertebral fusion, hemivertebrae, posterior rib fusion, reduced rib number, and other rib malformations.

Chromosomal Location of Human Ortholog: 17p13.1

Cellular Component: nucleus

Molecular Function: protein dimerization activity; DNA binding; transcription factor binding

Biological Process: somitogenesis; Notch signaling pathway; transcription, DNA-dependent; rhythmic process; mesoderm development; negative regulation of transcription from RNA polymerase II promoter; regulation of somitogenesis; skeletal development

Disease: Spondylocostal Dysostosis 4, Autosomal Recessive