Aliases for HES7 Gene
External Ids for HES7 Gene
Previous GeneCards Identifiers for HES7 Gene
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]
GeneCards Summary for HES7 Gene
HES7 (Hes Family BHLH Transcription Factor 7) is a Protein Coding gene. Diseases associated with HES7 include Spondylocostal Dysostosis 4, Autosomal Recessive and Spondylocostal Dysostosis 5. Among its related pathways are Mesodermal Commitment Pathway and Gene regulatory network modelling somitogenesis. GO annotations related to this gene include transcription factor binding and protein dimerization activity.
UniProtKB/Swiss-Prot for HES7 Gene
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 (By similarity).