UniProt Protein Function: | 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: 17p13.1Disease: Spondylocostal Dysostosis 4, Autosomal Recessive |
UniProt Protein Details: | |
NCBI 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] |
UniProt Code: | Q9BYE0 |
NCBI GenInfo Identifier: | 296434525 |
NCBI Gene ID: | 84667 |
NCBI Accession: | Q9BYE0.2 |
UniProt Secondary Accession: | Q9BYE0,F8VPC9 |
UniProt Related Accession: | Q9BYE0 |
Molecular Weight: | 25,280 Da |
NCBI Full Name: | Transcription factor HES-7 |
NCBI Synonym Full Names: | hes family bHLH transcription factor 7 |
NCBI Official Symbol: | HES7Â Â |
NCBI Official Synonym Symbols: | SCDO4; bHLHb37Â Â |
NCBI Protein Information: | transcription factor HES-7 |
UniProt Protein Name: | Transcription factor HES-7 |
UniProt Synonym Protein Names: | Class B basic helix-loop-helix protein 37; bHLHb37; Hairy and enhancer of split 7; bHLH factor Hes7 |
Protein Family: | Transcription factor |
UniProt Gene Name: | HES7Â Â |
UniProt Entry Name: | HES7_HUMAN |