JAG1 : jagged canonical Notch ligand 1
Jagged-1: A Pivotal Player in Cell Signaling and Development
Description
The JAG1 gene holds the blueprint for creating a protein called Jagged-1, a crucial player in the intricate dance of cell communication known as the Notch signaling pathway. Jagged-1, a membrane-bound protein, serves as a "lock" that invites Notch receptors, found on neighboring cells, to connect like a "key."
Associated Diseases
Jagged-1‘s involvement in embryonic development and cell regulation extends its significance to various diseases:
- Alagille Syndrome: A rare inherited disorder characterized by liver and heart defects. Mutations in the JAG1 gene disrupt Notch signaling, hindering proper development.
- Tetralogy of Fallot: A heart condition where oxygen-poor blood flows to the body. Abnormal Jagged-1 expression has been linked to its occurrence.
- Spinocerebellar Ataxia Type 2: A progressive neurological disorder affecting coordination and balance. Mutations in JAG1 impair the development of the nervous system.
Did you Know ?
Jagged-1‘s importance is evident in its prevalence: approximately 1 in 100,000 people worldwide suffer from Alagille Syndrome caused by mutations in JAG1. This statistic highlights the profound impact of Jagged-1 on human health.
