HEYL: Difference between revisions

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'''HEYL''' is a gene that encodes the Hairy/enhancer-of-split related with YRPW motif-like protein in humans. This protein is a transcriptional repressor, which plays a crucial role in the [[Notch signaling pathway]], a system that regulates cell differentiation, proliferation, and apoptosis.
 
{{Infobox gene
| name = HEYL
| symbol = HEYL
| HGNCid = 4859
| chromosome = 1
| arm = p
| band = 34
}}
 
'''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 ==
== 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]].
The HEYL gene is part of the [[Hairy and Enhancer of Split]] (HES) family of transcriptional repressors. These proteins are basic helix-loop-helix (bHLH) transcription factors that play key roles in developmental processes. The HEYL protein specifically interacts with the [[Notch receptor]] on the cell surface, which is activated by ligands present on neighboring cells. This interaction initiates a series of proteolytic cleavages of the Notch receptor, releasing the Notch intracellular domain (NICD) that translocates to the nucleus and interacts with other proteins to regulate gene expression.


== Clinical Significance ==
== 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.


Alterations in the HEYL gene have been associated with various medical conditions. For instance, mutations in this gene have been linked to [[Alagille syndrome]], a genetic disorder affecting the liver, heart, and other parts of the body. Additionally, aberrant expression of HEYL has been implicated in several types of cancer, including [[breast cancer]] and [[colorectal cancer]].
== 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 ==
== 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]].
Research on the HEYL gene and its protein product is ongoing, with scientists seeking to understand its precise role in the Notch signaling pathway and its potential as a therapeutic target in diseases such as cancer.
 
[[File:Notch signaling pathway.svg|thumb|right|The Notch signaling pathway, in which the HEYL protein plays a crucial role.]]


== See Also ==
== See Also ==
* [[Notch signaling pathway]]
* [[Notch signaling pathway]]
* [[Hairy and Enhancer of Split]]
* [[Transcription factor]]
* [[Alagille syndrome]]
* [[Cell differentiation]]
* [[Breast cancer]]
* [[Colorectal cancer]]


== References ==
== References ==
<references />
{{reflist}}
 
== External Links ==
* [https://www.ncbi.nlm.nih.gov/gene/26508 HEYL Gene - NCBI]
* [https://www.genecards.org/cgi-bin/carddisp.pl?gene=HEYL HEYL Gene - GeneCards]


[[Category:Genes]]
[[Category:Genes on human chromosome 1]]
[[Category:Human proteins]]
[[Category:Transcription factors]]
[[Category:Transcription factors]]
{{medicine-stub}}
[[Category:Developmental biology]]

Latest revision as of 20:25, 30 December 2024


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[edit]

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[edit]

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[edit]

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[edit]

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[edit]

References[edit]

<references group="" responsive="1"></references>


External Links[edit]