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 Hes7-Related Spondylocostal Dysostosis, Autosomal Recessive. Among its related pathways are Mesodermal Commitment Pathway and PI3K-Akt signaling pathway. 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).