HES7

HES7

A gene on chromosome 17p13.1 that encodes a protein which represses transcription from both N-box- and E-box-containing promoters by forming a complex with a corepressor protein of the Groucho/TLE family.

Molecular pathology
Defects in HES7 cause spondylocostal dysostosis type 4.
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References in periodicals archive ?
Pop-Jordanova et al., "Autosomal dominant spondylocostal dysostosis in three generations of a Macedonian family: negative mutation analysis of DLL3, MESP2, HES7, and LFNG," American Journal of Medical genetics: Part A, vol.
In humans the HES7 gene has been linked with congenital scoliosis, a spinal defect that occurs in about 1 in 1,000 live births.