| Gene Symbol | HES7 |
| Entrez Gene ID | 84667 |
| Full Name | hes family bHLH transcription factor 7 |
| Synonyms | SCDO4,bHLHb37 |
| General protein information |
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| 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) |

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