Gene Symbol | HES7 |
Entrez Gene ID | 84667 |
Full Name | hes family bHLH transcription factor 7 |
Synonyms | SCDO4,bHLHb37 |
General protein information |
|
Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Spondylocostal dysostosis 4, autosomal recessive, 613686 (3) |