JAG1: Difference between revisions
CSV import |
CSV import |
||
| Line 1: | Line 1: | ||
'''JAG1''' | {{Infobox gene | ||
| name = JAG1 | |||
| image = <!-- Image removed --> | |||
| caption = <!-- Caption removed --> | |||
| HGNCid = 6180 | |||
| symbol = JAG1 | |||
| alt_symbols = AGS, AWS, CD339 | |||
| EntrezGene = 182 | |||
| OMIM = 601920 | |||
| RefSeq = NM_000214 | |||
| UniProt = P78504 | |||
| chromosome = 20 | |||
| arm = p | |||
| band = 12.2 | |||
}} | |||
'''JAG1''' (Jagged 1) is a [[gene]] that encodes a protein involved in the [[Notch signaling pathway]]. This pathway is crucial for [[cellular differentiation]], [[proliferation]], and [[apoptosis]]. The JAG1 protein is a ligand for the [[Notch receptor]], and its interaction with Notch receptors plays a significant role in [[embryonic development]] and [[tissue homeostasis]]. | |||
== Function == | == Function == | ||
The protein | The JAG1 protein is a member of the [[Jagged family]] of proteins, which are characterized by their role as ligands in the Notch signaling pathway. JAG1 is involved in the regulation of various developmental processes, including the formation of the [[heart]], [[kidneys]], and [[liver]]. It is also implicated in the development of the [[nervous system]] and the [[vascular system]]. | ||
== Clinical significance == | == Clinical significance == | ||
Mutations in the JAG1 gene are associated with Alagille syndrome | Mutations in the JAG1 gene are associated with [[Alagille syndrome]], a genetic disorder that affects the liver, heart, and other parts of the body. Alagille syndrome is characterized by [[bile duct paucity]], [[cardiac defects]], and distinctive facial features. JAG1 mutations can also lead to other conditions such as [[tetralogy of Fallot]] and [[pulmonary stenosis]]. | ||
== Interactions == | |||
JAG1 interacts with multiple proteins in the Notch signaling pathway, including the [[Notch1]], [[Notch2]], and [[Notch3]] receptors. These interactions are essential for the activation of Notch signaling, which influences cell fate decisions during development. | |||
[[ | == Research == | ||
Research on JAG1 continues to explore its role in various diseases and developmental processes. Studies are investigating the potential of targeting JAG1-Notch interactions for therapeutic purposes in conditions such as [[cancer]] and [[fibrosis]]. | |||
== See also == | == See also == | ||
* [[Notch signaling pathway]] | * [[Notch signaling pathway]] | ||
* [[Alagille syndrome]] | * [[Alagille syndrome]] | ||
* [[ | * [[Cell signaling]] | ||
== References == | == References == | ||
| Line 18: | Line 38: | ||
== External links == | == External links == | ||
* [ | * [https://www.ncbi.nlm.nih.gov/gene/182 JAG1 gene - NCBI] | ||
* [https://ghr.nlm.nih.gov/gene/JAG1 JAG1 - Genetics Home Reference] | |||
[[Category:Genes]] | [[Category:Genes on human chromosome 20]] | ||
[[Category: | [[Category:Developmental genes and proteins]] | ||
[[Category: | [[Category:Signal transduction]] | ||
Latest revision as of 20:41, 30 December 2024
| Symbol | JAG1 |
|---|---|
| HGNC ID | 6180 |
| Alternative symbols | – |
| Entrez Gene | 182 |
| OMIM | 601920 |
| RefSeq | NM_000214 |
| UniProt | P78504 |
| Chromosome | 20p12.2 |
| Locus supplementary data | – |
JAG1 (Jagged 1) is a gene that encodes a protein involved in the Notch signaling pathway. This pathway is crucial for cellular differentiation, proliferation, and apoptosis. The JAG1 protein is a ligand for the Notch receptor, and its interaction with Notch receptors plays a significant role in embryonic development and tissue homeostasis.
Function[edit]
The JAG1 protein is a member of the Jagged family of proteins, which are characterized by their role as ligands in the Notch signaling pathway. JAG1 is involved in the regulation of various developmental processes, including the formation of the heart, kidneys, and liver. It is also implicated in the development of the nervous system and the vascular system.
Clinical significance[edit]
Mutations in the JAG1 gene are associated with Alagille syndrome, a genetic disorder that affects the liver, heart, and other parts of the body. Alagille syndrome is characterized by bile duct paucity, cardiac defects, and distinctive facial features. JAG1 mutations can also lead to other conditions such as tetralogy of Fallot and pulmonary stenosis.
Interactions[edit]
JAG1 interacts with multiple proteins in the Notch signaling pathway, including the Notch1, Notch2, and Notch3 receptors. These interactions are essential for the activation of Notch signaling, which influences cell fate decisions during development.
Research[edit]
Research on JAG1 continues to explore its role in various diseases and developmental processes. Studies are investigating the potential of targeting JAG1-Notch interactions for therapeutic purposes in conditions such as cancer and fibrosis.
See also[edit]
References[edit]
<references />
