Primary Identifier | IPR032644 | Type | Family |
Short Name | HES-7 |
description | HES-7 is a bHLH-type repressor that is both a direct target of the Notch signalling pathway, and part of a negative feedback mechanism required to attenuate Notch signalling [, ]. It can bind to its own promoter, thereby inhibiting its own transcription. In mouse its 3'UTR is essential for somite segmentation clock []. Mutations in the HES-7 gene cause spondylocostal dysostosis, an inherited disorder characterised by the presence of extensive hemivertebrae, truncal shortening and abnormally aligned ribs []. |