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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. Note: This description may include information from UniProtKB.
Chromosomal Location of Human Ortholog: 17p13.1
Disease: Spondylocostal Dysostosis 4, Autosomal Recessive
Reference #:  Q9BYE0 (UniProtKB)
Alt. Names/Synonyms: bHLH factor Hes7; BHLHB37; Class B basic helix-loop-helix protein 37; Hairy and enhancer of split 7; hairy and enhancer of split 7 (Drosophila); HES7; hHes7; Transcription factor HES-7
Gene Symbols: HES7
Molecular weight: 24,899 Da
Basal Isoelectric point: 10.49  Predict pI for various phosphorylation states
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Protein Structure Not Found.

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