JAG1

JAG1

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

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

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

• Notch signaling pathway
• Alagille syndrome
• Cell signaling

References

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External links

• JAG1 gene - NCBI
• JAG1 - Genetics Home Reference