HEY1
Template:Short description Template:Infobox gene Hairy/enhancer-of-split related with YRPW motif protein 1 is a protein that in humans is encoded by the HEY1 gene.[1][2][3]
Function
This gene encodes a nuclear protein belonging to the hairy and enhancer of split-related (HESR) family of basic helix-loop-helix (bHLH)-type transcriptional repressors. Expression of this gene is induced by the Notch and c-Jun signal transduction pathways. Two similar and redundant genes in mouse are required for embryonic cardiovascular development, and are also implicated in neurogenesis and somitogenesis. Alternative splicing results in multiple transcript variants.[3]
Role in disease
HEY1::NCOA2 fusion which may arise via a small deletion del(8)(q13.3q21.1) is highly specific for the diagnosis of mesenchymal chondrosarcoma.[4]
References
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Further reading
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External links
This article incorporates text from the United States National Library of Medicine, which is in the public domain.