DLL3 : delta like canonical Notch ligand 3
The DLL3 Gene: A Regulator of Embryonic Development
The human body is a marvel of complexity, with countless processes working in harmony to create and maintain life. One crucial aspect of this development is the Notch pathway, a complex signaling system that plays a vital role in the formation of various body structures, including the spine.
Description
The DLL3 gene, located on chromosome 19q13.33, provides the instructions to produce the Delta-like 3 (DLL3) protein. This protein is involved in regulating the Notch pathway, specifically during embryonic development.
Associated Diseases
Mutations in the DLL3 gene have been linked to several disorders that affect the spine:
- Spondylocostal Dysostosis (SCD): A rare genetic condition characterized by vertebral malformations, rib abnormalities, and short stature.
- Spondylothoracic Dysostosis (STD): A condition that causes malformations of the spine and chest, leading to respiratory and heart problems.
Did you Know ?
The Notch pathway is highly conserved across species. Studies have shown that mutations in Notch pathway genes, including DLL3, can disrupt the development of zebrafish and mice, suggesting its crucial role in vertebrate embryogenesis.
