HEYL

From WikiMD's medical encyclopedia


HEYL
Symbol HEYL
HGNC ID 4859
Alternative symbols
Entrez Gene
OMIM
RefSeq
UniProt
Chromosome 1p34
Locus supplementary data


HEYL (Hes-related family bHLH transcription factor with YRPW motif-like) is a gene that encodes a member of the hairy and enhancer of split-related (HESR) family of basic helix-loop-helix (bHLH) transcription factors. These transcription factors are involved in the regulation of cell differentiation and developmental processes.

Function

The HEYL gene is known to play a role in the Notch signaling pathway, which is crucial for cell fate determination during embryonic development. The protein encoded by HEYL acts as a transcriptional repressor, influencing the expression of genes involved in cardiovascular development and neurogenesis.

Clinical Significance

Mutations or dysregulation of the HEYL gene have been implicated in various diseases, including certain types of cancer and congenital heart defects. Research is ongoing to better understand the specific mechanisms by which HEYL contributes to these conditions.

Interactions

HEYL interacts with other proteins in the Notch signaling pathway, including Notch receptors and ligands. These interactions are essential for the modulation of gene expression patterns that govern cell differentiation.

Research

Current research on HEYL focuses on its role in tumorigenesis and its potential as a therapeutic target. Studies are also exploring its involvement in stem cell biology and tissue regeneration.

See Also

References



External Links

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Contributors: Prab R. Tumpati, MD