HEY2

HEY2 (Hairy/Enhancer-of-split related with YRPW motif protein 2) is a protein that in humans is encoded by the HEY2 gene. This protein is a member of the basic helix-loop-helix (bHLH) family of transcription factors. It plays a significant role in cardiac development, neurogenesis, and Notch signaling pathway.

Function

HEY2 is a downstream effector of the Notch signaling pathway, which is a highly conserved cell signaling system present in most multicellular organisms. It is involved in various aspects of embryonic development, including the development of the heart and nervous system.

In the heart, HEY2 is crucial for the formation of the atrioventricular canal and ventricular septum. It also plays a role in the development of the neural tube, the precursor to the central nervous system.

Clinical Significance

Mutations in the HEY2 gene have been associated with various heart defects, including hypoplastic left heart syndrome and ventricular septal defect. It has also been implicated in certain types of cancer, including leukemia and glioblastoma, due to its role in cell proliferation and differentiation.

Research

Research into the function and regulation of HEY2 is ongoing, with a focus on understanding its role in development and disease. This could potentially lead to new therapeutic strategies for treating heart defects and cancers.

File:HEY2 protein structure.jpg

Structure of the HEY2 protein. Image from Wikimedia Commons.

See Also

• Notch signaling pathway
• Basic helix-loop-helix
• Transcription factor
• Gene

References

<references />

   This article is a medical stub. You can help WikiMD by expanding it!